Name: rs59411622
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs59411622

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:128041647-128041671 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(A)₁₅ / del(A)₁₃ / del(A)₁₂ / d…
del(A)₁₅ / del(A)₁₃ / del(A)₁₂ / del(A)₁₁ / del(A)₁₀ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇ / dup(A)₁₅ / dup(A)₁₉ / dup(A)₂₂ / dup(A)₂₃
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₅=0.000 (0/256, ALFA)
del(A)₁₃=0.000 (0/256, ALFA)
del(A)₁₂=0.000 (0/256, ALFA) (+ 14 more)
del(A)₁₁=0.000 (0/256, ALFA)
del(A)₁₀=0.000 (0/256, ALFA)
del(A)₉=0.000 (0/256, ALFA)
del(A)₈=0.000 (0/256, ALFA)
del(A)₇=0.000 (0/256, ALFA)
del(A)₆=0.000 (0/256, ALFA)
del(A)₅=0.000 (0/256, ALFA)
del(A)₄=0.000 (0/256, ALFA)
delAAA=0.000 (0/256, ALFA)
delAA=0.000 (0/256, ALFA)
delA=0.000 (0/256, ALFA)
dupA=0.000 (0/256, ALFA)
dupAA=0.000 (0/256, ALFA)
dup(A)₄=0.000 (0/256, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PTPRE : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	256	AAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
European	Sub	172	AAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African	Sub	60	AAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African Others	Sub	2	AAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African American	Sub	58	AAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	2	AAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	14	AAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	8	AAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	256	(A)₂₅=1.000	del(A)₁₅=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	European	Sub	172	(A)₂₅=1.000	del(A)₁₅=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	African	Sub	60	(A)₂₅=1.00	del(A)₁₅=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)₄=0.00
Allele Frequency Aggregator	Latin American 2	Sub	14	(A)₂₅=1.00	del(A)₁₅=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)₄=0.00
Allele Frequency Aggregator	Other	Sub	8	(A)₂₅=1.0	del(A)₁₅=0.0, del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dup(A)₄=0.0
Allele Frequency Aggregator	Latin American 1	Sub	2	(A)₂₅=1.0	del(A)₁₅=0.0, del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dup(A)₄=0.0
Allele Frequency Aggregator	South Asian	Sub	0	(A)₂₅=0	del(A)₁₅=0, del(A)₁₃=0, del(A)₁₂=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dup(A)₄=0
Allele Frequency Aggregator	Asian	Sub	0	(A)₂₅=0	del(A)₁₅=0, del(A)₁₃=0, del(A)₁₂=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dup(A)₄=0

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 10	NC_000010.11:g.128041657_128041671del
GRCh38.p14 chr 10	NC_000010.11:g.128041659_128041671del
GRCh38.p14 chr 10	NC_000010.11:g.128041660_128041671del
GRCh38.p14 chr 10	NC_000010.11:g.128041661_128041671del
GRCh38.p14 chr 10	NC_000010.11:g.128041662_128041671del
GRCh38.p14 chr 10	NC_000010.11:g.128041663_128041671del
GRCh38.p14 chr 10	NC_000010.11:g.128041664_128041671del
GRCh38.p14 chr 10	NC_000010.11:g.128041665_128041671del
GRCh38.p14 chr 10	NC_000010.11:g.128041666_128041671del
GRCh38.p14 chr 10	NC_000010.11:g.128041667_128041671del
GRCh38.p14 chr 10	NC_000010.11:g.128041668_128041671del
GRCh38.p14 chr 10	NC_000010.11:g.128041669_128041671del
GRCh38.p14 chr 10	NC_000010.11:g.128041670_128041671del
GRCh38.p14 chr 10	NC_000010.11:g.128041671del
GRCh38.p14 chr 10	NC_000010.11:g.128041671dup
GRCh38.p14 chr 10	NC_000010.11:g.128041670_128041671dup
GRCh38.p14 chr 10	NC_000010.11:g.128041669_128041671dup
GRCh38.p14 chr 10	NC_000010.11:g.128041668_128041671dup
GRCh38.p14 chr 10	NC_000010.11:g.128041667_128041671dup
GRCh38.p14 chr 10	NC_000010.11:g.128041666_128041671dup
GRCh38.p14 chr 10	NC_000010.11:g.128041665_128041671dup
GRCh38.p14 chr 10	NC_000010.11:g.128041657_128041671dup
GRCh38.p14 chr 10	NC_000010.11:g.128041653_128041671dup
GRCh38.p14 chr 10	NC_000010.11:g.128041650_128041671dup
GRCh38.p14 chr 10	NC_000010.11:g.128041649_128041671dup
GRCh37.p13 chr 10	NC_000010.10:g.129839921_129839935del
GRCh37.p13 chr 10	NC_000010.10:g.129839923_129839935del
GRCh37.p13 chr 10	NC_000010.10:g.129839924_129839935del
GRCh37.p13 chr 10	NC_000010.10:g.129839925_129839935del
GRCh37.p13 chr 10	NC_000010.10:g.129839926_129839935del
GRCh37.p13 chr 10	NC_000010.10:g.129839927_129839935del
GRCh37.p13 chr 10	NC_000010.10:g.129839928_129839935del
GRCh37.p13 chr 10	NC_000010.10:g.129839929_129839935del
GRCh37.p13 chr 10	NC_000010.10:g.129839930_129839935del
GRCh37.p13 chr 10	NC_000010.10:g.129839931_129839935del
GRCh37.p13 chr 10	NC_000010.10:g.129839932_129839935del
GRCh37.p13 chr 10	NC_000010.10:g.129839933_129839935del
GRCh37.p13 chr 10	NC_000010.10:g.129839934_129839935del
GRCh37.p13 chr 10	NC_000010.10:g.129839935del
GRCh37.p13 chr 10	NC_000010.10:g.129839935dup
GRCh37.p13 chr 10	NC_000010.10:g.129839934_129839935dup
GRCh37.p13 chr 10	NC_000010.10:g.129839933_129839935dup
GRCh37.p13 chr 10	NC_000010.10:g.129839932_129839935dup
GRCh37.p13 chr 10	NC_000010.10:g.129839931_129839935dup
GRCh37.p13 chr 10	NC_000010.10:g.129839930_129839935dup
GRCh37.p13 chr 10	NC_000010.10:g.129839929_129839935dup
GRCh37.p13 chr 10	NC_000010.10:g.129839921_129839935dup
GRCh37.p13 chr 10	NC_000010.10:g.129839917_129839935dup
GRCh37.p13 chr 10	NC_000010.10:g.129839914_129839935dup
GRCh37.p13 chr 10	NC_000010.10:g.129839913_129839935dup
PTPRE RefSeqGene	NG_029511.1:g.139597_139611del
PTPRE RefSeqGene	NG_029511.1:g.139599_139611del
PTPRE RefSeqGene	NG_029511.1:g.139600_139611del
PTPRE RefSeqGene	NG_029511.1:g.139601_139611del
PTPRE RefSeqGene	NG_029511.1:g.139602_139611del
PTPRE RefSeqGene	NG_029511.1:g.139603_139611del
PTPRE RefSeqGene	NG_029511.1:g.139604_139611del
PTPRE RefSeqGene	NG_029511.1:g.139605_139611del
PTPRE RefSeqGene	NG_029511.1:g.139606_139611del
PTPRE RefSeqGene	NG_029511.1:g.139607_139611del
PTPRE RefSeqGene	NG_029511.1:g.139608_139611del
PTPRE RefSeqGene	NG_029511.1:g.139609_139611del
PTPRE RefSeqGene	NG_029511.1:g.139610_139611del
PTPRE RefSeqGene	NG_029511.1:g.139611del
PTPRE RefSeqGene	NG_029511.1:g.139611dup
PTPRE RefSeqGene	NG_029511.1:g.139610_139611dup
PTPRE RefSeqGene	NG_029511.1:g.139609_139611dup
PTPRE RefSeqGene	NG_029511.1:g.139608_139611dup
PTPRE RefSeqGene	NG_029511.1:g.139607_139611dup
PTPRE RefSeqGene	NG_029511.1:g.139606_139611dup
PTPRE RefSeqGene	NG_029511.1:g.139605_139611dup
PTPRE RefSeqGene	NG_029511.1:g.139597_139611dup
PTPRE RefSeqGene	NG_029511.1:g.139593_139611dup
PTPRE RefSeqGene	NG_029511.1:g.139590_139611dup
PTPRE RefSeqGene	NG_029511.1:g.139589_139611dup

Gene: PTPRE, protein tyrosine phosphatase receptor type E (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PTPRE transcript variant 3	NM_001316676.2:c.142+667_… NM_001316676.2:c.142+667_142+681del	N/A	Intron Variant
PTPRE transcript variant 4	NM_001316677.2:c.109+667_… NM_001316677.2:c.109+667_109+681del	N/A	Intron Variant
PTPRE transcript variant 5	NM_001323354.2:c.109+667_… NM_001323354.2:c.109+667_109+681del	N/A	Intron Variant
PTPRE transcript variant 6	NM_001323355.2:c.169+667_… NM_001323355.2:c.169+667_169+681del	N/A	Intron Variant
PTPRE transcript variant 7	NM_001323356.2:c.169+667_… NM_001323356.2:c.169+667_169+681del	N/A	Intron Variant
PTPRE transcript variant 1	NM_006504.6:c.109+667_109… NM_006504.6:c.109+667_109+681del	N/A	Intron Variant
PTPRE transcript variant 8	NM_001323357.2:c.	N/A	Genic Upstream Transcript Variant
PTPRE transcript variant 2	NM_130435.5:c.	N/A	Genic Upstream Transcript Variant
PTPRE transcript variant X6	XM_005252691.3:c.109+667_… XM_005252691.3:c.109+667_109+681del	N/A	Intron Variant
PTPRE transcript variant X2	XM_011539994.3:c.169+667_… XM_011539994.3:c.169+667_169+681del	N/A	Intron Variant
PTPRE transcript variant X3	XM_011539995.2:c.169+667_… XM_011539995.2:c.169+667_169+681del	N/A	Intron Variant
PTPRE transcript variant X4	XM_011539996.2:c.169+667_… XM_011539996.2:c.169+667_169+681del	N/A	Intron Variant
PTPRE transcript variant X14	XM_011539998.2:c.169+667_… XM_011539998.2:c.169+667_169+681del	N/A	Intron Variant
PTPRE transcript variant X1	XM_017016467.2:c.169+667_… XM_017016467.2:c.169+667_169+681del	N/A	Intron Variant
PTPRE transcript variant X12	XM_017016469.3:c.169+667_… XM_017016469.3:c.169+667_169+681del	N/A	Intron Variant
PTPRE transcript variant X16	XM_047425576.1:c.208+667_… XM_047425576.1:c.208+667_208+681del	N/A	Intron Variant
PTPRE transcript variant X5	XM_047425577.1:c.202+667_… XM_047425577.1:c.202+667_202+681del	N/A	Intron Variant
PTPRE transcript variant X7	XM_047425578.1:c.109+667_… XM_047425578.1:c.109+667_109+681del	N/A	Intron Variant
PTPRE transcript variant X8	XM_047425579.1:c.	N/A	Genic Upstream Transcript Variant
PTPRE transcript variant X9	XM_047425580.1:c.	N/A	Genic Upstream Transcript Variant
PTPRE transcript variant X10	XM_047425581.1:c.	N/A	Genic Upstream Transcript Variant
PTPRE transcript variant X11	XM_047425582.1:c.	N/A	Genic Upstream Transcript Variant
PTPRE transcript variant X13	XM_047425583.1:c.	N/A	Genic Upstream Transcript Variant
PTPRE transcript variant X15	XM_047425584.1:c.	N/A	Genic Upstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(A)₂₅=	del(A)₁₅	del(A)₁₃	del(A)₁₂	del(A)₁₁	del(A)₁₀	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇	dup(A)₁₅	dup(A)₁₉	dup(A)₂₂	dup(A)₂₃
GRCh38.p14 chr 10	NC_000010.11:g.128041647_128041671=	NC_000010.11:g.128041657_128041671del	NC_000010.11:g.128041659_128041671del	NC_000010.11:g.128041660_128041671del	NC_000010.11:g.128041661_128041671del	NC_000010.11:g.128041662_128041671del	NC_000010.11:g.128041663_128041671del	NC_000010.11:g.128041664_128041671del	NC_000010.11:g.128041665_128041671del	NC_000010.11:g.128041666_128041671del	NC_000010.11:g.128041667_128041671del	NC_000010.11:g.128041668_128041671del	NC_000010.11:g.128041669_128041671del	NC_000010.11:g.128041670_128041671del	NC_000010.11:g.128041671del	NC_000010.11:g.128041671dup	NC_000010.11:g.128041670_128041671dup	NC_000010.11:g.128041669_128041671dup	NC_000010.11:g.128041668_128041671dup	NC_000010.11:g.128041667_128041671dup	NC_000010.11:g.128041666_128041671dup	NC_000010.11:g.128041665_128041671dup	NC_000010.11:g.128041657_128041671dup	NC_000010.11:g.128041653_128041671dup	NC_000010.11:g.128041650_128041671dup	NC_000010.11:g.128041649_128041671dup
GRCh37.p13 chr 10	NC_000010.10:g.129839911_129839935=	NC_000010.10:g.129839921_129839935del	NC_000010.10:g.129839923_129839935del	NC_000010.10:g.129839924_129839935del	NC_000010.10:g.129839925_129839935del	NC_000010.10:g.129839926_129839935del	NC_000010.10:g.129839927_129839935del	NC_000010.10:g.129839928_129839935del	NC_000010.10:g.129839929_129839935del	NC_000010.10:g.129839930_129839935del	NC_000010.10:g.129839931_129839935del	NC_000010.10:g.129839932_129839935del	NC_000010.10:g.129839933_129839935del	NC_000010.10:g.129839934_129839935del	NC_000010.10:g.129839935del	NC_000010.10:g.129839935dup	NC_000010.10:g.129839934_129839935dup	NC_000010.10:g.129839933_129839935dup	NC_000010.10:g.129839932_129839935dup	NC_000010.10:g.129839931_129839935dup	NC_000010.10:g.129839930_129839935dup	NC_000010.10:g.129839929_129839935dup	NC_000010.10:g.129839921_129839935dup	NC_000010.10:g.129839917_129839935dup	NC_000010.10:g.129839914_129839935dup	NC_000010.10:g.129839913_129839935dup
PTPRE RefSeqGene	NG_029511.1:g.139587_139611=	NG_029511.1:g.139597_139611del	NG_029511.1:g.139599_139611del	NG_029511.1:g.139600_139611del	NG_029511.1:g.139601_139611del	NG_029511.1:g.139602_139611del	NG_029511.1:g.139603_139611del	NG_029511.1:g.139604_139611del	NG_029511.1:g.139605_139611del	NG_029511.1:g.139606_139611del	NG_029511.1:g.139607_139611del	NG_029511.1:g.139608_139611del	NG_029511.1:g.139609_139611del	NG_029511.1:g.139610_139611del	NG_029511.1:g.139611del	NG_029511.1:g.139611dup	NG_029511.1:g.139610_139611dup	NG_029511.1:g.139609_139611dup	NG_029511.1:g.139608_139611dup	NG_029511.1:g.139607_139611dup	NG_029511.1:g.139606_139611dup	NG_029511.1:g.139605_139611dup	NG_029511.1:g.139597_139611dup	NG_029511.1:g.139593_139611dup	NG_029511.1:g.139590_139611dup	NG_029511.1:g.139589_139611dup
PTPRE transcript variant 3	NM_001316676.2:c.142+657=	NM_001316676.2:c.142+667_142+681del	NM_001316676.2:c.142+669_142+681del	NM_001316676.2:c.142+670_142+681del	NM_001316676.2:c.142+671_142+681del	NM_001316676.2:c.142+672_142+681del	NM_001316676.2:c.142+673_142+681del	NM_001316676.2:c.142+674_142+681del	NM_001316676.2:c.142+675_142+681del	NM_001316676.2:c.142+676_142+681del	NM_001316676.2:c.142+677_142+681del	NM_001316676.2:c.142+678_142+681del	NM_001316676.2:c.142+679_142+681del	NM_001316676.2:c.142+680_142+681del	NM_001316676.2:c.142+681del	NM_001316676.2:c.142+681dup	NM_001316676.2:c.142+680_142+681dup	NM_001316676.2:c.142+679_142+681dup	NM_001316676.2:c.142+678_142+681dup	NM_001316676.2:c.142+677_142+681dup	NM_001316676.2:c.142+676_142+681dup	NM_001316676.2:c.142+675_142+681dup	NM_001316676.2:c.142+667_142+681dup	NM_001316676.2:c.142+663_142+681dup	NM_001316676.2:c.142+660_142+681dup	NM_001316676.2:c.142+659_142+681dup
PTPRE transcript variant 4	NM_001316677.2:c.109+657=	NM_001316677.2:c.109+667_109+681del	NM_001316677.2:c.109+669_109+681del	NM_001316677.2:c.109+670_109+681del	NM_001316677.2:c.109+671_109+681del	NM_001316677.2:c.109+672_109+681del	NM_001316677.2:c.109+673_109+681del	NM_001316677.2:c.109+674_109+681del	NM_001316677.2:c.109+675_109+681del	NM_001316677.2:c.109+676_109+681del	NM_001316677.2:c.109+677_109+681del	NM_001316677.2:c.109+678_109+681del	NM_001316677.2:c.109+679_109+681del	NM_001316677.2:c.109+680_109+681del	NM_001316677.2:c.109+681del	NM_001316677.2:c.109+681dup	NM_001316677.2:c.109+680_109+681dup	NM_001316677.2:c.109+679_109+681dup	NM_001316677.2:c.109+678_109+681dup	NM_001316677.2:c.109+677_109+681dup	NM_001316677.2:c.109+676_109+681dup	NM_001316677.2:c.109+675_109+681dup	NM_001316677.2:c.109+667_109+681dup	NM_001316677.2:c.109+663_109+681dup	NM_001316677.2:c.109+660_109+681dup	NM_001316677.2:c.109+659_109+681dup
PTPRE transcript variant 5	NM_001323354.2:c.109+657=	NM_001323354.2:c.109+667_109+681del	NM_001323354.2:c.109+669_109+681del	NM_001323354.2:c.109+670_109+681del	NM_001323354.2:c.109+671_109+681del	NM_001323354.2:c.109+672_109+681del	NM_001323354.2:c.109+673_109+681del	NM_001323354.2:c.109+674_109+681del	NM_001323354.2:c.109+675_109+681del	NM_001323354.2:c.109+676_109+681del	NM_001323354.2:c.109+677_109+681del	NM_001323354.2:c.109+678_109+681del	NM_001323354.2:c.109+679_109+681del	NM_001323354.2:c.109+680_109+681del	NM_001323354.2:c.109+681del	NM_001323354.2:c.109+681dup	NM_001323354.2:c.109+680_109+681dup	NM_001323354.2:c.109+679_109+681dup	NM_001323354.2:c.109+678_109+681dup	NM_001323354.2:c.109+677_109+681dup	NM_001323354.2:c.109+676_109+681dup	NM_001323354.2:c.109+675_109+681dup	NM_001323354.2:c.109+667_109+681dup	NM_001323354.2:c.109+663_109+681dup	NM_001323354.2:c.109+660_109+681dup	NM_001323354.2:c.109+659_109+681dup
PTPRE transcript variant 6	NM_001323355.2:c.169+657=	NM_001323355.2:c.169+667_169+681del	NM_001323355.2:c.169+669_169+681del	NM_001323355.2:c.169+670_169+681del	NM_001323355.2:c.169+671_169+681del	NM_001323355.2:c.169+672_169+681del	NM_001323355.2:c.169+673_169+681del	NM_001323355.2:c.169+674_169+681del	NM_001323355.2:c.169+675_169+681del	NM_001323355.2:c.169+676_169+681del	NM_001323355.2:c.169+677_169+681del	NM_001323355.2:c.169+678_169+681del	NM_001323355.2:c.169+679_169+681del	NM_001323355.2:c.169+680_169+681del	NM_001323355.2:c.169+681del	NM_001323355.2:c.169+681dup	NM_001323355.2:c.169+680_169+681dup	NM_001323355.2:c.169+679_169+681dup	NM_001323355.2:c.169+678_169+681dup	NM_001323355.2:c.169+677_169+681dup	NM_001323355.2:c.169+676_169+681dup	NM_001323355.2:c.169+675_169+681dup	NM_001323355.2:c.169+667_169+681dup	NM_001323355.2:c.169+663_169+681dup	NM_001323355.2:c.169+660_169+681dup	NM_001323355.2:c.169+659_169+681dup
PTPRE transcript variant 7	NM_001323356.2:c.169+657=	NM_001323356.2:c.169+667_169+681del	NM_001323356.2:c.169+669_169+681del	NM_001323356.2:c.169+670_169+681del	NM_001323356.2:c.169+671_169+681del	NM_001323356.2:c.169+672_169+681del	NM_001323356.2:c.169+673_169+681del	NM_001323356.2:c.169+674_169+681del	NM_001323356.2:c.169+675_169+681del	NM_001323356.2:c.169+676_169+681del	NM_001323356.2:c.169+677_169+681del	NM_001323356.2:c.169+678_169+681del	NM_001323356.2:c.169+679_169+681del	NM_001323356.2:c.169+680_169+681del	NM_001323356.2:c.169+681del	NM_001323356.2:c.169+681dup	NM_001323356.2:c.169+680_169+681dup	NM_001323356.2:c.169+679_169+681dup	NM_001323356.2:c.169+678_169+681dup	NM_001323356.2:c.169+677_169+681dup	NM_001323356.2:c.169+676_169+681dup	NM_001323356.2:c.169+675_169+681dup	NM_001323356.2:c.169+667_169+681dup	NM_001323356.2:c.169+663_169+681dup	NM_001323356.2:c.169+660_169+681dup	NM_001323356.2:c.169+659_169+681dup
PTPRE transcript variant 1	NM_006504.4:c.109+657=	NM_006504.4:c.109+667_109+681del	NM_006504.4:c.109+669_109+681del	NM_006504.4:c.109+670_109+681del	NM_006504.4:c.109+671_109+681del	NM_006504.4:c.109+672_109+681del	NM_006504.4:c.109+673_109+681del	NM_006504.4:c.109+674_109+681del	NM_006504.4:c.109+675_109+681del	NM_006504.4:c.109+676_109+681del	NM_006504.4:c.109+677_109+681del	NM_006504.4:c.109+678_109+681del	NM_006504.4:c.109+679_109+681del	NM_006504.4:c.109+680_109+681del	NM_006504.4:c.109+681del	NM_006504.4:c.109+681dup	NM_006504.4:c.109+680_109+681dup	NM_006504.4:c.109+679_109+681dup	NM_006504.4:c.109+678_109+681dup	NM_006504.4:c.109+677_109+681dup	NM_006504.4:c.109+676_109+681dup	NM_006504.4:c.109+675_109+681dup	NM_006504.4:c.109+667_109+681dup	NM_006504.4:c.109+663_109+681dup	NM_006504.4:c.109+660_109+681dup	NM_006504.4:c.109+659_109+681dup
PTPRE transcript variant 1	NM_006504.6:c.109+657=	NM_006504.6:c.109+667_109+681del	NM_006504.6:c.109+669_109+681del	NM_006504.6:c.109+670_109+681del	NM_006504.6:c.109+671_109+681del	NM_006504.6:c.109+672_109+681del	NM_006504.6:c.109+673_109+681del	NM_006504.6:c.109+674_109+681del	NM_006504.6:c.109+675_109+681del	NM_006504.6:c.109+676_109+681del	NM_006504.6:c.109+677_109+681del	NM_006504.6:c.109+678_109+681del	NM_006504.6:c.109+679_109+681del	NM_006504.6:c.109+680_109+681del	NM_006504.6:c.109+681del	NM_006504.6:c.109+681dup	NM_006504.6:c.109+680_109+681dup	NM_006504.6:c.109+679_109+681dup	NM_006504.6:c.109+678_109+681dup	NM_006504.6:c.109+677_109+681dup	NM_006504.6:c.109+676_109+681dup	NM_006504.6:c.109+675_109+681dup	NM_006504.6:c.109+667_109+681dup	NM_006504.6:c.109+663_109+681dup	NM_006504.6:c.109+660_109+681dup	NM_006504.6:c.109+659_109+681dup
PTPRE transcript variant X1	XM_005252688.1:c.169+657=	XM_005252688.1:c.169+667_169+681del	XM_005252688.1:c.169+669_169+681del	XM_005252688.1:c.169+670_169+681del	XM_005252688.1:c.169+671_169+681del	XM_005252688.1:c.169+672_169+681del	XM_005252688.1:c.169+673_169+681del	XM_005252688.1:c.169+674_169+681del	XM_005252688.1:c.169+675_169+681del	XM_005252688.1:c.169+676_169+681del	XM_005252688.1:c.169+677_169+681del	XM_005252688.1:c.169+678_169+681del	XM_005252688.1:c.169+679_169+681del	XM_005252688.1:c.169+680_169+681del	XM_005252688.1:c.169+681del	XM_005252688.1:c.169+681dup	XM_005252688.1:c.169+680_169+681dup	XM_005252688.1:c.169+679_169+681dup	XM_005252688.1:c.169+678_169+681dup	XM_005252688.1:c.169+677_169+681dup	XM_005252688.1:c.169+676_169+681dup	XM_005252688.1:c.169+675_169+681dup	XM_005252688.1:c.169+667_169+681dup	XM_005252688.1:c.169+663_169+681dup	XM_005252688.1:c.169+660_169+681dup	XM_005252688.1:c.169+659_169+681dup
PTPRE transcript variant X2	XM_005252689.1:c.169+657=	XM_005252689.1:c.169+667_169+681del	XM_005252689.1:c.169+669_169+681del	XM_005252689.1:c.169+670_169+681del	XM_005252689.1:c.169+671_169+681del	XM_005252689.1:c.169+672_169+681del	XM_005252689.1:c.169+673_169+681del	XM_005252689.1:c.169+674_169+681del	XM_005252689.1:c.169+675_169+681del	XM_005252689.1:c.169+676_169+681del	XM_005252689.1:c.169+677_169+681del	XM_005252689.1:c.169+678_169+681del	XM_005252689.1:c.169+679_169+681del	XM_005252689.1:c.169+680_169+681del	XM_005252689.1:c.169+681del	XM_005252689.1:c.169+681dup	XM_005252689.1:c.169+680_169+681dup	XM_005252689.1:c.169+679_169+681dup	XM_005252689.1:c.169+678_169+681dup	XM_005252689.1:c.169+677_169+681dup	XM_005252689.1:c.169+676_169+681dup	XM_005252689.1:c.169+675_169+681dup	XM_005252689.1:c.169+667_169+681dup	XM_005252689.1:c.169+663_169+681dup	XM_005252689.1:c.169+660_169+681dup	XM_005252689.1:c.169+659_169+681dup
PTPRE transcript variant X3	XM_005252690.1:c.109+657=	XM_005252690.1:c.109+667_109+681del	XM_005252690.1:c.109+669_109+681del	XM_005252690.1:c.109+670_109+681del	XM_005252690.1:c.109+671_109+681del	XM_005252690.1:c.109+672_109+681del	XM_005252690.1:c.109+673_109+681del	XM_005252690.1:c.109+674_109+681del	XM_005252690.1:c.109+675_109+681del	XM_005252690.1:c.109+676_109+681del	XM_005252690.1:c.109+677_109+681del	XM_005252690.1:c.109+678_109+681del	XM_005252690.1:c.109+679_109+681del	XM_005252690.1:c.109+680_109+681del	XM_005252690.1:c.109+681del	XM_005252690.1:c.109+681dup	XM_005252690.1:c.109+680_109+681dup	XM_005252690.1:c.109+679_109+681dup	XM_005252690.1:c.109+678_109+681dup	XM_005252690.1:c.109+677_109+681dup	XM_005252690.1:c.109+676_109+681dup	XM_005252690.1:c.109+675_109+681dup	XM_005252690.1:c.109+667_109+681dup	XM_005252690.1:c.109+663_109+681dup	XM_005252690.1:c.109+660_109+681dup	XM_005252690.1:c.109+659_109+681dup
PTPRE transcript variant X5	XM_005252691.1:c.109+657=	XM_005252691.1:c.109+667_109+681del	XM_005252691.1:c.109+669_109+681del	XM_005252691.1:c.109+670_109+681del	XM_005252691.1:c.109+671_109+681del	XM_005252691.1:c.109+672_109+681del	XM_005252691.1:c.109+673_109+681del	XM_005252691.1:c.109+674_109+681del	XM_005252691.1:c.109+675_109+681del	XM_005252691.1:c.109+676_109+681del	XM_005252691.1:c.109+677_109+681del	XM_005252691.1:c.109+678_109+681del	XM_005252691.1:c.109+679_109+681del	XM_005252691.1:c.109+680_109+681del	XM_005252691.1:c.109+681del	XM_005252691.1:c.109+681dup	XM_005252691.1:c.109+680_109+681dup	XM_005252691.1:c.109+679_109+681dup	XM_005252691.1:c.109+678_109+681dup	XM_005252691.1:c.109+677_109+681dup	XM_005252691.1:c.109+676_109+681dup	XM_005252691.1:c.109+675_109+681dup	XM_005252691.1:c.109+667_109+681dup	XM_005252691.1:c.109+663_109+681dup	XM_005252691.1:c.109+660_109+681dup	XM_005252691.1:c.109+659_109+681dup
PTPRE transcript variant X6	XM_005252691.3:c.109+657=	XM_005252691.3:c.109+667_109+681del	XM_005252691.3:c.109+669_109+681del	XM_005252691.3:c.109+670_109+681del	XM_005252691.3:c.109+671_109+681del	XM_005252691.3:c.109+672_109+681del	XM_005252691.3:c.109+673_109+681del	XM_005252691.3:c.109+674_109+681del	XM_005252691.3:c.109+675_109+681del	XM_005252691.3:c.109+676_109+681del	XM_005252691.3:c.109+677_109+681del	XM_005252691.3:c.109+678_109+681del	XM_005252691.3:c.109+679_109+681del	XM_005252691.3:c.109+680_109+681del	XM_005252691.3:c.109+681del	XM_005252691.3:c.109+681dup	XM_005252691.3:c.109+680_109+681dup	XM_005252691.3:c.109+679_109+681dup	XM_005252691.3:c.109+678_109+681dup	XM_005252691.3:c.109+677_109+681dup	XM_005252691.3:c.109+676_109+681dup	XM_005252691.3:c.109+675_109+681dup	XM_005252691.3:c.109+667_109+681dup	XM_005252691.3:c.109+663_109+681dup	XM_005252691.3:c.109+660_109+681dup	XM_005252691.3:c.109+659_109+681dup
PTPRE transcript variant X6	XM_005252692.1:c.109+657=	XM_005252692.1:c.109+667_109+681del	XM_005252692.1:c.109+669_109+681del	XM_005252692.1:c.109+670_109+681del	XM_005252692.1:c.109+671_109+681del	XM_005252692.1:c.109+672_109+681del	XM_005252692.1:c.109+673_109+681del	XM_005252692.1:c.109+674_109+681del	XM_005252692.1:c.109+675_109+681del	XM_005252692.1:c.109+676_109+681del	XM_005252692.1:c.109+677_109+681del	XM_005252692.1:c.109+678_109+681del	XM_005252692.1:c.109+679_109+681del	XM_005252692.1:c.109+680_109+681del	XM_005252692.1:c.109+681del	XM_005252692.1:c.109+681dup	XM_005252692.1:c.109+680_109+681dup	XM_005252692.1:c.109+679_109+681dup	XM_005252692.1:c.109+678_109+681dup	XM_005252692.1:c.109+677_109+681dup	XM_005252692.1:c.109+676_109+681dup	XM_005252692.1:c.109+675_109+681dup	XM_005252692.1:c.109+667_109+681dup	XM_005252692.1:c.109+663_109+681dup	XM_005252692.1:c.109+660_109+681dup	XM_005252692.1:c.109+659_109+681dup
PTPRE transcript variant X6	XM_005252693.1:c.109+657=	XM_005252693.1:c.109+667_109+681del	XM_005252693.1:c.109+669_109+681del	XM_005252693.1:c.109+670_109+681del	XM_005252693.1:c.109+671_109+681del	XM_005252693.1:c.109+672_109+681del	XM_005252693.1:c.109+673_109+681del	XM_005252693.1:c.109+674_109+681del	XM_005252693.1:c.109+675_109+681del	XM_005252693.1:c.109+676_109+681del	XM_005252693.1:c.109+677_109+681del	XM_005252693.1:c.109+678_109+681del	XM_005252693.1:c.109+679_109+681del	XM_005252693.1:c.109+680_109+681del	XM_005252693.1:c.109+681del	XM_005252693.1:c.109+681dup	XM_005252693.1:c.109+680_109+681dup	XM_005252693.1:c.109+679_109+681dup	XM_005252693.1:c.109+678_109+681dup	XM_005252693.1:c.109+677_109+681dup	XM_005252693.1:c.109+676_109+681dup	XM_005252693.1:c.109+675_109+681dup	XM_005252693.1:c.109+667_109+681dup	XM_005252693.1:c.109+663_109+681dup	XM_005252693.1:c.109+660_109+681dup	XM_005252693.1:c.109+659_109+681dup
PTPRE transcript variant X2	XM_011539994.3:c.169+657=	XM_011539994.3:c.169+667_169+681del	XM_011539994.3:c.169+669_169+681del	XM_011539994.3:c.169+670_169+681del	XM_011539994.3:c.169+671_169+681del	XM_011539994.3:c.169+672_169+681del	XM_011539994.3:c.169+673_169+681del	XM_011539994.3:c.169+674_169+681del	XM_011539994.3:c.169+675_169+681del	XM_011539994.3:c.169+676_169+681del	XM_011539994.3:c.169+677_169+681del	XM_011539994.3:c.169+678_169+681del	XM_011539994.3:c.169+679_169+681del	XM_011539994.3:c.169+680_169+681del	XM_011539994.3:c.169+681del	XM_011539994.3:c.169+681dup	XM_011539994.3:c.169+680_169+681dup	XM_011539994.3:c.169+679_169+681dup	XM_011539994.3:c.169+678_169+681dup	XM_011539994.3:c.169+677_169+681dup	XM_011539994.3:c.169+676_169+681dup	XM_011539994.3:c.169+675_169+681dup	XM_011539994.3:c.169+667_169+681dup	XM_011539994.3:c.169+663_169+681dup	XM_011539994.3:c.169+660_169+681dup	XM_011539994.3:c.169+659_169+681dup
PTPRE transcript variant X3	XM_011539995.2:c.169+657=	XM_011539995.2:c.169+667_169+681del	XM_011539995.2:c.169+669_169+681del	XM_011539995.2:c.169+670_169+681del	XM_011539995.2:c.169+671_169+681del	XM_011539995.2:c.169+672_169+681del	XM_011539995.2:c.169+673_169+681del	XM_011539995.2:c.169+674_169+681del	XM_011539995.2:c.169+675_169+681del	XM_011539995.2:c.169+676_169+681del	XM_011539995.2:c.169+677_169+681del	XM_011539995.2:c.169+678_169+681del	XM_011539995.2:c.169+679_169+681del	XM_011539995.2:c.169+680_169+681del	XM_011539995.2:c.169+681del	XM_011539995.2:c.169+681dup	XM_011539995.2:c.169+680_169+681dup	XM_011539995.2:c.169+679_169+681dup	XM_011539995.2:c.169+678_169+681dup	XM_011539995.2:c.169+677_169+681dup	XM_011539995.2:c.169+676_169+681dup	XM_011539995.2:c.169+675_169+681dup	XM_011539995.2:c.169+667_169+681dup	XM_011539995.2:c.169+663_169+681dup	XM_011539995.2:c.169+660_169+681dup	XM_011539995.2:c.169+659_169+681dup
PTPRE transcript variant X4	XM_011539996.2:c.169+657=	XM_011539996.2:c.169+667_169+681del	XM_011539996.2:c.169+669_169+681del	XM_011539996.2:c.169+670_169+681del	XM_011539996.2:c.169+671_169+681del	XM_011539996.2:c.169+672_169+681del	XM_011539996.2:c.169+673_169+681del	XM_011539996.2:c.169+674_169+681del	XM_011539996.2:c.169+675_169+681del	XM_011539996.2:c.169+676_169+681del	XM_011539996.2:c.169+677_169+681del	XM_011539996.2:c.169+678_169+681del	XM_011539996.2:c.169+679_169+681del	XM_011539996.2:c.169+680_169+681del	XM_011539996.2:c.169+681del	XM_011539996.2:c.169+681dup	XM_011539996.2:c.169+680_169+681dup	XM_011539996.2:c.169+679_169+681dup	XM_011539996.2:c.169+678_169+681dup	XM_011539996.2:c.169+677_169+681dup	XM_011539996.2:c.169+676_169+681dup	XM_011539996.2:c.169+675_169+681dup	XM_011539996.2:c.169+667_169+681dup	XM_011539996.2:c.169+663_169+681dup	XM_011539996.2:c.169+660_169+681dup	XM_011539996.2:c.169+659_169+681dup
PTPRE transcript variant X14	XM_011539998.2:c.169+657=	XM_011539998.2:c.169+667_169+681del	XM_011539998.2:c.169+669_169+681del	XM_011539998.2:c.169+670_169+681del	XM_011539998.2:c.169+671_169+681del	XM_011539998.2:c.169+672_169+681del	XM_011539998.2:c.169+673_169+681del	XM_011539998.2:c.169+674_169+681del	XM_011539998.2:c.169+675_169+681del	XM_011539998.2:c.169+676_169+681del	XM_011539998.2:c.169+677_169+681del	XM_011539998.2:c.169+678_169+681del	XM_011539998.2:c.169+679_169+681del	XM_011539998.2:c.169+680_169+681del	XM_011539998.2:c.169+681del	XM_011539998.2:c.169+681dup	XM_011539998.2:c.169+680_169+681dup	XM_011539998.2:c.169+679_169+681dup	XM_011539998.2:c.169+678_169+681dup	XM_011539998.2:c.169+677_169+681dup	XM_011539998.2:c.169+676_169+681dup	XM_011539998.2:c.169+675_169+681dup	XM_011539998.2:c.169+667_169+681dup	XM_011539998.2:c.169+663_169+681dup	XM_011539998.2:c.169+660_169+681dup	XM_011539998.2:c.169+659_169+681dup
PTPRE transcript variant X1	XM_017016467.2:c.169+657=	XM_017016467.2:c.169+667_169+681del	XM_017016467.2:c.169+669_169+681del	XM_017016467.2:c.169+670_169+681del	XM_017016467.2:c.169+671_169+681del	XM_017016467.2:c.169+672_169+681del	XM_017016467.2:c.169+673_169+681del	XM_017016467.2:c.169+674_169+681del	XM_017016467.2:c.169+675_169+681del	XM_017016467.2:c.169+676_169+681del	XM_017016467.2:c.169+677_169+681del	XM_017016467.2:c.169+678_169+681del	XM_017016467.2:c.169+679_169+681del	XM_017016467.2:c.169+680_169+681del	XM_017016467.2:c.169+681del	XM_017016467.2:c.169+681dup	XM_017016467.2:c.169+680_169+681dup	XM_017016467.2:c.169+679_169+681dup	XM_017016467.2:c.169+678_169+681dup	XM_017016467.2:c.169+677_169+681dup	XM_017016467.2:c.169+676_169+681dup	XM_017016467.2:c.169+675_169+681dup	XM_017016467.2:c.169+667_169+681dup	XM_017016467.2:c.169+663_169+681dup	XM_017016467.2:c.169+660_169+681dup	XM_017016467.2:c.169+659_169+681dup
PTPRE transcript variant X12	XM_017016469.3:c.169+657=	XM_017016469.3:c.169+667_169+681del	XM_017016469.3:c.169+669_169+681del	XM_017016469.3:c.169+670_169+681del	XM_017016469.3:c.169+671_169+681del	XM_017016469.3:c.169+672_169+681del	XM_017016469.3:c.169+673_169+681del	XM_017016469.3:c.169+674_169+681del	XM_017016469.3:c.169+675_169+681del	XM_017016469.3:c.169+676_169+681del	XM_017016469.3:c.169+677_169+681del	XM_017016469.3:c.169+678_169+681del	XM_017016469.3:c.169+679_169+681del	XM_017016469.3:c.169+680_169+681del	XM_017016469.3:c.169+681del	XM_017016469.3:c.169+681dup	XM_017016469.3:c.169+680_169+681dup	XM_017016469.3:c.169+679_169+681dup	XM_017016469.3:c.169+678_169+681dup	XM_017016469.3:c.169+677_169+681dup	XM_017016469.3:c.169+676_169+681dup	XM_017016469.3:c.169+675_169+681dup	XM_017016469.3:c.169+667_169+681dup	XM_017016469.3:c.169+663_169+681dup	XM_017016469.3:c.169+660_169+681dup	XM_017016469.3:c.169+659_169+681dup
PTPRE transcript variant X16	XM_047425576.1:c.208+657=	XM_047425576.1:c.208+667_208+681del	XM_047425576.1:c.208+669_208+681del	XM_047425576.1:c.208+670_208+681del	XM_047425576.1:c.208+671_208+681del	XM_047425576.1:c.208+672_208+681del	XM_047425576.1:c.208+673_208+681del	XM_047425576.1:c.208+674_208+681del	XM_047425576.1:c.208+675_208+681del	XM_047425576.1:c.208+676_208+681del	XM_047425576.1:c.208+677_208+681del	XM_047425576.1:c.208+678_208+681del	XM_047425576.1:c.208+679_208+681del	XM_047425576.1:c.208+680_208+681del	XM_047425576.1:c.208+681del	XM_047425576.1:c.208+681dup	XM_047425576.1:c.208+680_208+681dup	XM_047425576.1:c.208+679_208+681dup	XM_047425576.1:c.208+678_208+681dup	XM_047425576.1:c.208+677_208+681dup	XM_047425576.1:c.208+676_208+681dup	XM_047425576.1:c.208+675_208+681dup	XM_047425576.1:c.208+667_208+681dup	XM_047425576.1:c.208+663_208+681dup	XM_047425576.1:c.208+660_208+681dup	XM_047425576.1:c.208+659_208+681dup
PTPRE transcript variant X5	XM_047425577.1:c.202+657=	XM_047425577.1:c.202+667_202+681del	XM_047425577.1:c.202+669_202+681del	XM_047425577.1:c.202+670_202+681del	XM_047425577.1:c.202+671_202+681del	XM_047425577.1:c.202+672_202+681del	XM_047425577.1:c.202+673_202+681del	XM_047425577.1:c.202+674_202+681del	XM_047425577.1:c.202+675_202+681del	XM_047425577.1:c.202+676_202+681del	XM_047425577.1:c.202+677_202+681del	XM_047425577.1:c.202+678_202+681del	XM_047425577.1:c.202+679_202+681del	XM_047425577.1:c.202+680_202+681del	XM_047425577.1:c.202+681del	XM_047425577.1:c.202+681dup	XM_047425577.1:c.202+680_202+681dup	XM_047425577.1:c.202+679_202+681dup	XM_047425577.1:c.202+678_202+681dup	XM_047425577.1:c.202+677_202+681dup	XM_047425577.1:c.202+676_202+681dup	XM_047425577.1:c.202+675_202+681dup	XM_047425577.1:c.202+667_202+681dup	XM_047425577.1:c.202+663_202+681dup	XM_047425577.1:c.202+660_202+681dup	XM_047425577.1:c.202+659_202+681dup
PTPRE transcript variant X7	XM_047425578.1:c.109+657=	XM_047425578.1:c.109+667_109+681del	XM_047425578.1:c.109+669_109+681del	XM_047425578.1:c.109+670_109+681del	XM_047425578.1:c.109+671_109+681del	XM_047425578.1:c.109+672_109+681del	XM_047425578.1:c.109+673_109+681del	XM_047425578.1:c.109+674_109+681del	XM_047425578.1:c.109+675_109+681del	XM_047425578.1:c.109+676_109+681del	XM_047425578.1:c.109+677_109+681del	XM_047425578.1:c.109+678_109+681del	XM_047425578.1:c.109+679_109+681del	XM_047425578.1:c.109+680_109+681del	XM_047425578.1:c.109+681del	XM_047425578.1:c.109+681dup	XM_047425578.1:c.109+680_109+681dup	XM_047425578.1:c.109+679_109+681dup	XM_047425578.1:c.109+678_109+681dup	XM_047425578.1:c.109+677_109+681dup	XM_047425578.1:c.109+676_109+681dup	XM_047425578.1:c.109+675_109+681dup	XM_047425578.1:c.109+667_109+681dup	XM_047425578.1:c.109+663_109+681dup	XM_047425578.1:c.109+660_109+681dup	XM_047425578.1:c.109+659_109+681dup

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

51 SubSNP, 30 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss80812036	Sep 08, 2015 (146)
2	HGSV	ss81916079	Dec 15, 2007 (129)
3	HUMANGENOME_JCVI	ss95556635	Dec 05, 2013 (144)
4	PJP	ss294683190	May 09, 2011 (137)
5	PJP	ss294683191	May 09, 2011 (135)
6	SWEGEN	ss3007355184	Nov 08, 2017 (151)
7	MCHAISSO	ss3063674841	Nov 08, 2017 (151)
8	EVA_DECODE	ss3690938573	Jul 13, 2019 (153)
9	EVA_DECODE	ss3690938574	Jul 13, 2019 (153)
10	EVA_DECODE	ss3690938575	Jul 13, 2019 (153)
11	EVA_DECODE	ss3690938576	Jul 13, 2019 (153)
12	EVA_DECODE	ss3690938577	Jul 13, 2019 (153)
13	EVA_DECODE	ss3690938578	Jul 13, 2019 (153)
14	ACPOP	ss3737791642	Jul 13, 2019 (153)
15	ACPOP	ss3737791643	Jul 13, 2019 (153)
16	PACBIO	ss3786824140	Jul 13, 2019 (153)
17	PACBIO	ss3791981317	Jul 13, 2019 (153)
18	PACBIO	ss3796863485	Jul 13, 2019 (153)
19	EVA	ss3832400778	Apr 26, 2020 (154)
20	GNOMAD	ss4227837645	Apr 26, 2021 (155)
21	GNOMAD	ss4227837646	Apr 26, 2021 (155)
22	GNOMAD	ss4227837647	Apr 26, 2021 (155)
23	GNOMAD	ss4227837648	Apr 26, 2021 (155)
24	GNOMAD	ss4227837649	Apr 26, 2021 (155)
25	GNOMAD	ss4227837650	Apr 26, 2021 (155)
26	GNOMAD	ss4227837651	Apr 26, 2021 (155)
27	GNOMAD	ss4227837652	Apr 26, 2021 (155)
28	GNOMAD	ss4227837653	Apr 26, 2021 (155)
29	GNOMAD	ss4227837654	Apr 26, 2021 (155)
30	GNOMAD	ss4227837655	Apr 26, 2021 (155)
31	GNOMAD	ss4227837656	Apr 26, 2021 (155)
32	GNOMAD	ss4227837657	Apr 26, 2021 (155)
33	GNOMAD	ss4227837658	Apr 26, 2021 (155)
34	GNOMAD	ss4227837659	Apr 26, 2021 (155)
35	GNOMAD	ss4227837660	Apr 26, 2021 (155)
36	GNOMAD	ss4227837661	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5200044476	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5200044477	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5200044478	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5200044479	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5200044480	Apr 26, 2021 (155)
42	1000G_HIGH_COVERAGE	ss5285915466	Oct 16, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5285915467	Oct 16, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5285915468	Oct 16, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5285915469	Oct 16, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5285915470	Oct 16, 2022 (156)
47	TOMMO_GENOMICS	ss5746590896	Oct 16, 2022 (156)
48	TOMMO_GENOMICS	ss5746590897	Oct 16, 2022 (156)
49	TOMMO_GENOMICS	ss5746590898	Oct 16, 2022 (156)
50	TOMMO_GENOMICS	ss5746590899	Oct 16, 2022 (156)
51	TOMMO_GENOMICS	ss5746590900	Oct 16, 2022 (156)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367583775 (NC_000010.11:128041646::A 660/72096) Row 367583776 (NC_000010.11:128041646::AA 35/72116) Row 367583777 (NC_000010.11:128041646::AAA 15/72112)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367583775 (NC_000010.11:128041646::A 660/72096) Row 367583776 (NC_000010.11:128041646::AA 35/72116) Row 367583777 (NC_000010.11:128041646::AAA 15/72112)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367583775 (NC_000010.11:128041646::A 660/72096) Row 367583776 (NC_000010.11:128041646::AA 35/72116) Row 367583777 (NC_000010.11:128041646::AAA 15/72112)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367583775 (NC_000010.11:128041646::A 660/72096) Row 367583776 (NC_000010.11:128041646::AA 35/72116) Row 367583777 (NC_000010.11:128041646::AAA 15/72112)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367583775 (NC_000010.11:128041646::A 660/72096) Row 367583776 (NC_000010.11:128041646::AA 35/72116) Row 367583777 (NC_000010.11:128041646::AAA 15/72112)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367583775 (NC_000010.11:128041646::A 660/72096) Row 367583776 (NC_000010.11:128041646::AA 35/72116) Row 367583777 (NC_000010.11:128041646::AAA 15/72112)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367583775 (NC_000010.11:128041646::A 660/72096) Row 367583776 (NC_000010.11:128041646::AA 35/72116) Row 367583777 (NC_000010.11:128041646::AAA 15/72112)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367583775 (NC_000010.11:128041646::A 660/72096) Row 367583776 (NC_000010.11:128041646::AA 35/72116) Row 367583777 (NC_000010.11:128041646::AAA 15/72112)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367583775 (NC_000010.11:128041646::A 660/72096) Row 367583776 (NC_000010.11:128041646::AA 35/72116) Row 367583777 (NC_000010.11:128041646::AAA 15/72112)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367583775 (NC_000010.11:128041646::A 660/72096) Row 367583776 (NC_000010.11:128041646::AA 35/72116) Row 367583777 (NC_000010.11:128041646::AAA 15/72112)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367583775 (NC_000010.11:128041646::A 660/72096) Row 367583776 (NC_000010.11:128041646::AA 35/72116) Row 367583777 (NC_000010.11:128041646::AAA 15/72112)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367583775 (NC_000010.11:128041646::A 660/72096) Row 367583776 (NC_000010.11:128041646::AA 35/72116) Row 367583777 (NC_000010.11:128041646::AAA 15/72112)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367583775 (NC_000010.11:128041646::A 660/72096) Row 367583776 (NC_000010.11:128041646::AA 35/72116) Row 367583777 (NC_000010.11:128041646::AAA 15/72112)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367583775 (NC_000010.11:128041646::A 660/72096) Row 367583776 (NC_000010.11:128041646::AA 35/72116) Row 367583777 (NC_000010.11:128041646::AAA 15/72112)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367583775 (NC_000010.11:128041646::A 660/72096) Row 367583776 (NC_000010.11:128041646::AA 35/72116) Row 367583777 (NC_000010.11:128041646::AAA 15/72112)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367583775 (NC_000010.11:128041646::A 660/72096) Row 367583776 (NC_000010.11:128041646::AA 35/72116) Row 367583777 (NC_000010.11:128041646::AAA 15/72112)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367583775 (NC_000010.11:128041646::A 660/72096) Row 367583776 (NC_000010.11:128041646::AA 35/72116) Row 367583777 (NC_000010.11:128041646::AAA 15/72112)...	-	Apr 26, 2021 (155)
69	Northern Sweden Submission ignored due to conflicting rows: Row 11076507 (NC_000010.10:129839910:AA: 206/550) Row 11076508 (NC_000010.10:129839910:AAA: 59/550)	-	Jul 13, 2019 (153)
70	Northern Sweden Submission ignored due to conflicting rows: Row 11076507 (NC_000010.10:129839910:AA: 206/550) Row 11076508 (NC_000010.10:129839910:AAA: 59/550)	-	Jul 13, 2019 (153)
71	8.3KJPN Submission ignored due to conflicting rows: Row 58013783 (NC_000010.10:129839910:AA: 7489/15906) Row 58013784 (NC_000010.10:129839910::A 1165/15906) Row 58013785 (NC_000010.10:129839910:A: 824/15906)...	-	Apr 26, 2021 (155)
72	8.3KJPN Submission ignored due to conflicting rows: Row 58013783 (NC_000010.10:129839910:AA: 7489/15906) Row 58013784 (NC_000010.10:129839910::A 1165/15906) Row 58013785 (NC_000010.10:129839910:A: 824/15906)...	-	Apr 26, 2021 (155)
73	8.3KJPN Submission ignored due to conflicting rows: Row 58013783 (NC_000010.10:129839910:AA: 7489/15906) Row 58013784 (NC_000010.10:129839910::A 1165/15906) Row 58013785 (NC_000010.10:129839910:A: 824/15906)...	-	Apr 26, 2021 (155)
74	8.3KJPN Submission ignored due to conflicting rows: Row 58013783 (NC_000010.10:129839910:AA: 7489/15906) Row 58013784 (NC_000010.10:129839910::A 1165/15906) Row 58013785 (NC_000010.10:129839910:A: 824/15906)...	-	Apr 26, 2021 (155)
75	8.3KJPN Submission ignored due to conflicting rows: Row 58013783 (NC_000010.10:129839910:AA: 7489/15906) Row 58013784 (NC_000010.10:129839910::A 1165/15906) Row 58013785 (NC_000010.10:129839910:A: 824/15906)...	-	Apr 26, 2021 (155)
76	14KJPN Submission ignored due to conflicting rows: Row 80428000 (NC_000010.11:128041646::A 2550/27860) Row 80428001 (NC_000010.11:128041646:AA: 16216/27860) Row 80428002 (NC_000010.11:128041646:A: 1880/27860)...	-	Oct 16, 2022 (156)
77	14KJPN Submission ignored due to conflicting rows: Row 80428000 (NC_000010.11:128041646::A 2550/27860) Row 80428001 (NC_000010.11:128041646:AA: 16216/27860) Row 80428002 (NC_000010.11:128041646:A: 1880/27860)...	-	Oct 16, 2022 (156)
78	14KJPN Submission ignored due to conflicting rows: Row 80428000 (NC_000010.11:128041646::A 2550/27860) Row 80428001 (NC_000010.11:128041646:AA: 16216/27860) Row 80428002 (NC_000010.11:128041646:A: 1880/27860)...	-	Oct 16, 2022 (156)
79	14KJPN Submission ignored due to conflicting rows: Row 80428000 (NC_000010.11:128041646::A 2550/27860) Row 80428001 (NC_000010.11:128041646:AA: 16216/27860) Row 80428002 (NC_000010.11:128041646:A: 1880/27860)...	-	Oct 16, 2022 (156)
80	14KJPN Submission ignored due to conflicting rows: Row 80428000 (NC_000010.11:128041646::A 2550/27860) Row 80428001 (NC_000010.11:128041646:AA: 16216/27860) Row 80428002 (NC_000010.11:128041646:A: 1880/27860)...	-	Oct 16, 2022 (156)
81	ALFA	NC_000010.11 - 128041647	Apr 26, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs60889467	Oct 12, 2011 (135)
rs139944688	Sep 17, 2011 (135)
rs147326637	May 11, 2012 (137)
rs398015065	Jul 01, 2015 (144)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
7918421375	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4227837661	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAA:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
7918421375	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss3007355184	NC_000010.10:129839910:AAAAAAAAAAA… NC_000010.10:129839910:AAAAAAAAAAAA:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4227837660	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAA:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
7918421375	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4227837659	NC_000010.11:128041646:AAAAAAAAAAA:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
7918421375	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
7918421375	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4227837658	NC_000010.11:128041646:AAAAAAAAA:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
7918421375	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4227837657	NC_000010.11:128041646:AAAAAAAA:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
7918421375	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
7918421375	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
7918421375	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3690938578, ss4227837656	NC_000010.11:128041646:AAAAA:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
7918421375	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5285915470	NC_000010.11:128041646:AAAA:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
7918421375	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3690938577	NC_000010.11:128041647:AAAA:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss80812036	NC_000010.8:129729922:AAA:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3737791643, ss5200044479	NC_000010.10:129839910:AAA:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss5285915466, ss5746590899	NC_000010.11:128041646:AAA:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
7918421375	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3690938576	NC_000010.11:128041648:AAA:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss81916079	NC_000010.8:129729923:AA:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss294683190	NC_000010.9:129729900:AA:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss294683191	NC_000010.9:129729923:AA:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3737791642, ss3786824140, ss3791981317, ss3796863485, ss3832400778, ss5200044476	NC_000010.10:129839910:AA:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3063674841, ss5746590897	NC_000010.11:128041646:AA:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
7918421375	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3690938575	NC_000010.11:128041649:AA:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss95556635	NT_008818.16:1073864:AA:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5200044478	NC_000010.10:129839910:A:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5285915467, ss5746590898	NC_000010.11:128041646:A:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
7918421375	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3690938574	NC_000010.11:128041650:A:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5200044477	NC_000010.10:129839910::A	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4227837645, ss5285915469, ss5746590896	NC_000010.11:128041646::A	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7918421375	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3690938573	NC_000010.11:128041651::A	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5200044480	NC_000010.10:129839910::AA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4227837646, ss5285915468, ss5746590900	NC_000010.11:128041646::AA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7918421375	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4227837647	NC_000010.11:128041646::AAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4227837648	NC_000010.11:128041646::AAAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7918421375	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4227837649	NC_000010.11:128041646::AAAAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4227837650	NC_000010.11:128041646::AAAAAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4227837651	NC_000010.11:128041646::AAAAAAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4227837652	NC_000010.11:128041646::AAAAAAAAAA… NC_000010.11:128041646::AAAAAAAAAAAAAAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4227837653	NC_000010.11:128041646::AAAAAAAAAA… NC_000010.11:128041646::AAAAAAAAAAAAAAAAAAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4227837654	NC_000010.11:128041646::AAAAAAAAAA… NC_000010.11:128041646::AAAAAAAAAAAAAAAAAAAAAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4227837655	NC_000010.11:128041646::AAAAAAAAAA… NC_000010.11:128041646::AAAAAAAAAAAAAAAAAAAAAAA	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI
ss3133662850	NC_000010.11:128041646:AAAAAAA:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
ss3133662853	NC_000010.11:128041646:AAAAAAAAAA:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA
ss3133662856	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAA:	NC_000010.11:128041646:AAAAAAAAAAA… NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs59411622

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs59411622