Name: rs11336623
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.

rs11336623

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:127980339-127980352 (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(T)₄ / delTTT / delTT / delT / …
del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₁₀ / dup(T)₁₁ / dup(T)₁₂ / dup(T)₁₄ / ins(T)₁₅ / ins(T)₁₈ / ins(T)₁₉ / ins(T)₂₀ / ins(T)₂₁
Variation Type: Indel Insertion and Deletion
Frequency: delTTT=0.1281 (1175/9170, ALFA)
delTTT=0.2041 (1022/5008, 1000G)

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	9170	TTTTTTTTTTTTTT=0.8304	TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.1281, TTTTTTTTTTTT=0.0007, TTTTTTTTTTTTT=0.0116, TTTTTTTTTTTTTTT=0.0257, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0025, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0010, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000	0.778803	0.035959	0.185238	32
European	Sub	7952	TTTTTTTTTTTTTT=0.8050	TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.1473, TTTTTTTTTTTT=0.0008, TTTTTTTTTTTTT=0.0133, TTTTTTTTTTTTTTT=0.0297, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0029, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0011, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000	0.742123	0.041459	0.216418	32
African	Sub	532	TTTTTTTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	12	TTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	520	TTTTTTTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	64	TTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	46	TTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	18	TTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	52	TTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	332	TTTTTTTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	52	TTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	186	TTTTTTTTTTTTTT=0.978	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.022, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000	0.978495	0.021505	0.0	32

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	9170	(T)₁₄=0.8304	del(T)₄=0.0000, delTTT=0.1281, delTT=0.0007, delT=0.0116, dupT=0.0257, dupTT=0.0000, dupTTT=0.0000, dup(T)₁₁=0.0025, dup(T)₁₂=0.0010
Allele Frequency Aggregator	European	Sub	7952	(T)₁₄=0.8050	del(T)₄=0.0000, delTTT=0.1473, delTT=0.0008, delT=0.0133, dupT=0.0297, dupTT=0.0000, dupTTT=0.0000, dup(T)₁₁=0.0029, dup(T)₁₂=0.0011
Allele Frequency Aggregator	African	Sub	532	(T)₁₄=1.000	del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₁₁=0.000, dup(T)₁₂=0.000
Allele Frequency Aggregator	Latin American 2	Sub	332	(T)₁₄=1.000	del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₁₁=0.000, dup(T)₁₂=0.000
Allele Frequency Aggregator	Other	Sub	186	(T)₁₄=0.978	del(T)₄=0.000, delTTT=0.022, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₁₁=0.000, dup(T)₁₂=0.000
Allele Frequency Aggregator	Asian	Sub	64	(T)₁₄=1.00	del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₁₁=0.00, dup(T)₁₂=0.00
Allele Frequency Aggregator	Latin American 1	Sub	52	(T)₁₄=1.00	del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₁₁=0.00, dup(T)₁₂=0.00
Allele Frequency Aggregator	South Asian	Sub	52	(T)₁₄=1.00	del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₁₁=0.00, dup(T)₁₂=0.00
1000Genomes	Global	Study-wide	5008	(T)₁₄=0.7959	delTTT=0.2041
1000Genomes	African	Sub	1322	(T)₁₄=0.8245	delTTT=0.1755
1000Genomes	East Asian	Sub	1008	(T)₁₄=0.7768	delTTT=0.2232
1000Genomes	Europe	Sub	1006	(T)₁₄=0.7644	delTTT=0.2356
1000Genomes	South Asian	Sub	978	(T)₁₄=0.770	delTTT=0.230
1000Genomes	American	Sub	694	(T)₁₄=0.852	delTTT=0.148

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.127980349_127980352del
GRCh38.p14 chr 10	NC_000010.11:g.127980350_127980352del
GRCh38.p14 chr 10	NC_000010.11:g.127980351_127980352del
GRCh38.p14 chr 10	NC_000010.11:g.127980352del
GRCh38.p14 chr 10	NC_000010.11:g.127980352dup
GRCh38.p14 chr 10	NC_000010.11:g.127980351_127980352dup
GRCh38.p14 chr 10	NC_000010.11:g.127980350_127980352dup
GRCh38.p14 chr 10	NC_000010.11:g.127980343_127980352dup
GRCh38.p14 chr 10	NC_000010.11:g.127980342_127980352dup
GRCh38.p14 chr 10	NC_000010.11:g.127980341_127980352dup
GRCh38.p14 chr 10	NC_000010.11:g.127980339_127980352dup
GRCh38.p14 chr 10	NC_000010.11:g.127980352_127980353insTTTTTTTTTTTTTTT
GRCh38.p14 chr 10	NC_000010.11:g.127980352_127980353insTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 10	NC_000010.11:g.127980352_127980353insTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 10	NC_000010.11:g.127980352_127980353insTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 10	NC_000010.11:g.127980352_127980353insTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 10	NC_000010.10:g.129778613_129778616del
GRCh37.p13 chr 10	NC_000010.10:g.129778614_129778616del
GRCh37.p13 chr 10	NC_000010.10:g.129778615_129778616del
GRCh37.p13 chr 10	NC_000010.10:g.129778616del
GRCh37.p13 chr 10	NC_000010.10:g.129778616dup
GRCh37.p13 chr 10	NC_000010.10:g.129778615_129778616dup
GRCh37.p13 chr 10	NC_000010.10:g.129778614_129778616dup
GRCh37.p13 chr 10	NC_000010.10:g.129778607_129778616dup
GRCh37.p13 chr 10	NC_000010.10:g.129778606_129778616dup
GRCh37.p13 chr 10	NC_000010.10:g.129778605_129778616dup
GRCh37.p13 chr 10	NC_000010.10:g.129778603_129778616dup
GRCh37.p13 chr 10	NC_000010.10:g.129778616_129778617insTTTTTTTTTTTTTTT
GRCh37.p13 chr 10	NC_000010.10:g.129778616_129778617insTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 10	NC_000010.10:g.129778616_129778617insTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 10	NC_000010.10:g.129778616_129778617insTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 10	NC_000010.10:g.129778616_129778617insTTTTTTTTTTTTTTTTTTTTT
PTPRE RefSeqGene	NG_029511.1:g.78289_78292del
PTPRE RefSeqGene	NG_029511.1:g.78290_78292del
PTPRE RefSeqGene	NG_029511.1:g.78291_78292del
PTPRE RefSeqGene	NG_029511.1:g.78292del
PTPRE RefSeqGene	NG_029511.1:g.78292dup
PTPRE RefSeqGene	NG_029511.1:g.78291_78292dup
PTPRE RefSeqGene	NG_029511.1:g.78290_78292dup
PTPRE RefSeqGene	NG_029511.1:g.78283_78292dup
PTPRE RefSeqGene	NG_029511.1:g.78282_78292dup
PTPRE RefSeqGene	NG_029511.1:g.78281_78292dup
PTPRE RefSeqGene	NG_029511.1:g.78279_78292dup
PTPRE RefSeqGene	NG_029511.1:g.78292_78293insTTTTTTTTTTTTTTT
PTPRE RefSeqGene	NG_029511.1:g.78292_78293insTTTTTTTTTTTTTTTTTT
PTPRE RefSeqGene	NG_029511.1:g.78292_78293insTTTTTTTTTTTTTTTTTTT
PTPRE RefSeqGene	NG_029511.1:g.78292_78293insTTTTTTTTTTTTTTTTTTTT
PTPRE RefSeqGene	NG_029511.1:g.78292_78293insTTTTTTTTTTTTTTTTTTTTT

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.4-1925_4… NM_001316676.2:c.4-1925_4-1922del	N/A	Intron Variant
PTPRE transcript variant 6	NM_001323355.2:c.54-60526… NM_001323355.2:c.54-60526_54-60523del	N/A	Intron Variant
PTPRE transcript variant 7	NM_001323356.2:c.54-60526… NM_001323356.2:c.54-60526_54-60523del	N/A	Intron Variant
PTPRE transcript variant 1	NM_006504.6:c.-30-1925_-3… NM_006504.6:c.-30-1925_-30-1922del	N/A	Intron Variant
PTPRE transcript variant 4	NM_001316677.2:c.	N/A	Genic Upstream Transcript Variant
PTPRE transcript variant 5	NM_001323354.2:c.	N/A	Genic Upstream Transcript 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 X2	XM_011539994.3:c.54-60526… XM_011539994.3:c.54-60526_54-60523del	N/A	Intron Variant
PTPRE transcript variant X3	XM_011539995.2:c.54-60526… XM_011539995.2:c.54-60526_54-60523del	N/A	Intron Variant
PTPRE transcript variant X4	XM_011539996.2:c.54-60526… XM_011539996.2:c.54-60526_54-60523del	N/A	Intron Variant
PTPRE transcript variant X14	XM_011539998.2:c.54-60526… XM_011539998.2:c.54-60526_54-60523del	N/A	Intron Variant
PTPRE transcript variant X1	XM_017016467.2:c.54-60526… XM_017016467.2:c.54-60526_54-60523del	N/A	Intron Variant
PTPRE transcript variant X12	XM_017016469.3:c.54-60526… XM_017016469.3:c.54-60526_54-60523del	N/A	Intron Variant
PTPRE transcript variant X5	XM_047425577.1:c.64-1925_… XM_047425577.1:c.64-1925_64-1922del	N/A	Intron Variant
PTPRE transcript variant X7	XM_047425578.1:c.-30-1925… XM_047425578.1:c.-30-1925_-30-1922del	N/A	Intron Variant
PTPRE transcript variant X16	XM_047425576.1:c.-1866_-1… XM_047425576.1:c.-1866_-1853=	N/A	5 Prime UTR Variant
PTPRE transcript variant X6	XM_005252691.3:c.	N/A	Genic Upstream Transcript 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	(T)₁₄=	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₁₀	dup(T)₁₁	dup(T)₁₂	dup(T)₁₄	ins(T)₁₅	ins(T)₁₈	ins(T)₁₉	ins(T)₂₀	ins(T)₂₁
GRCh38.p14 chr 10	NC_000010.11:g.127980339_127980352=	NC_000010.11:g.127980349_127980352del	NC_000010.11:g.127980350_127980352del	NC_000010.11:g.127980351_127980352del	NC_000010.11:g.127980352del	NC_000010.11:g.127980352dup	NC_000010.11:g.127980351_127980352dup	NC_000010.11:g.127980350_127980352dup	NC_000010.11:g.127980343_127980352dup	NC_000010.11:g.127980342_127980352dup	NC_000010.11:g.127980341_127980352dup	NC_000010.11:g.127980339_127980352dup	NC_000010.11:g.127980352_127980353insTTTTTTTTTTTTTTT	NC_000010.11:g.127980352_127980353insTTTTTTTTTTTTTTTTTT	NC_000010.11:g.127980352_127980353insTTTTTTTTTTTTTTTTTTT	NC_000010.11:g.127980352_127980353insTTTTTTTTTTTTTTTTTTTT	NC_000010.11:g.127980352_127980353insTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 10	NC_000010.10:g.129778603_129778616=	NC_000010.10:g.129778613_129778616del	NC_000010.10:g.129778614_129778616del	NC_000010.10:g.129778615_129778616del	NC_000010.10:g.129778616del	NC_000010.10:g.129778616dup	NC_000010.10:g.129778615_129778616dup	NC_000010.10:g.129778614_129778616dup	NC_000010.10:g.129778607_129778616dup	NC_000010.10:g.129778606_129778616dup	NC_000010.10:g.129778605_129778616dup	NC_000010.10:g.129778603_129778616dup	NC_000010.10:g.129778616_129778617insTTTTTTTTTTTTTTT	NC_000010.10:g.129778616_129778617insTTTTTTTTTTTTTTTTTT	NC_000010.10:g.129778616_129778617insTTTTTTTTTTTTTTTTTTT	NC_000010.10:g.129778616_129778617insTTTTTTTTTTTTTTTTTTTT	NC_000010.10:g.129778616_129778617insTTTTTTTTTTTTTTTTTTTTT
PTPRE RefSeqGene	NG_029511.1:g.78279_78292=	NG_029511.1:g.78289_78292del	NG_029511.1:g.78290_78292del	NG_029511.1:g.78291_78292del	NG_029511.1:g.78292del	NG_029511.1:g.78292dup	NG_029511.1:g.78291_78292dup	NG_029511.1:g.78290_78292dup	NG_029511.1:g.78283_78292dup	NG_029511.1:g.78282_78292dup	NG_029511.1:g.78281_78292dup	NG_029511.1:g.78279_78292dup	NG_029511.1:g.78292_78293insTTTTTTTTTTTTTTT	NG_029511.1:g.78292_78293insTTTTTTTTTTTTTTTTTT	NG_029511.1:g.78292_78293insTTTTTTTTTTTTTTTTTTT	NG_029511.1:g.78292_78293insTTTTTTTTTTTTTTTTTTTT	NG_029511.1:g.78292_78293insTTTTTTTTTTTTTTTTTTTTT
PTPRE transcript variant X16	XM_047425576.1:c.-1866_-1853=	XM_047425576.1:c.-1856_-1853del	XM_047425576.1:c.-1855_-1853del	XM_047425576.1:c.-1854_-1853del	XM_047425576.1:c.-1853del	XM_047425576.1:c.-1853dup	XM_047425576.1:c.-1854_-1853dup	XM_047425576.1:c.-1855_-1853dup	XM_047425576.1:c.-1862_-1853dup	XM_047425576.1:c.-1863_-1853dup	XM_047425576.1:c.-1864_-1853dup	XM_047425576.1:c.-1866_-1853dup	XM_047425576.1:c.-1853_-1852insTTTTTTTTTTTTTTT	XM_047425576.1:c.-1853_-1852insTTTTTTTTTTTTTTTTTT	XM_047425576.1:c.-1853_-1852insTTTTTTTTTTTTTTTTTTT	XM_047425576.1:c.-1853_-1852insTTTTTTTTTTTTTTTTTTTT	XM_047425576.1:c.-1853_-1852insTTTTTTTTTTTTTTTTTTTTT
PTPRE transcript variant 3	NM_001316676.2:c.4-1935=	NM_001316676.2:c.4-1925_4-1922del	NM_001316676.2:c.4-1924_4-1922del	NM_001316676.2:c.4-1923_4-1922del	NM_001316676.2:c.4-1922del	NM_001316676.2:c.4-1922dup	NM_001316676.2:c.4-1923_4-1922dup	NM_001316676.2:c.4-1924_4-1922dup	NM_001316676.2:c.4-1931_4-1922dup	NM_001316676.2:c.4-1932_4-1922dup	NM_001316676.2:c.4-1933_4-1922dup	NM_001316676.2:c.4-1935_4-1922dup	NM_001316676.2:c.4-1922_4-1921insTTTTTTTTTTTTTTT	NM_001316676.2:c.4-1922_4-1921insTTTTTTTTTTTTTTTTTT	NM_001316676.2:c.4-1922_4-1921insTTTTTTTTTTTTTTTTTTT	NM_001316676.2:c.4-1922_4-1921insTTTTTTTTTTTTTTTTTTTT	NM_001316676.2:c.4-1922_4-1921insTTTTTTTTTTTTTTTTTTTTT
PTPRE transcript variant 6	NM_001323355.2:c.54-60536=	NM_001323355.2:c.54-60526_54-60523del	NM_001323355.2:c.54-60525_54-60523del	NM_001323355.2:c.54-60524_54-60523del	NM_001323355.2:c.54-60523del	NM_001323355.2:c.54-60523dup	NM_001323355.2:c.54-60524_54-60523dup	NM_001323355.2:c.54-60525_54-60523dup	NM_001323355.2:c.54-60532_54-60523dup	NM_001323355.2:c.54-60533_54-60523dup	NM_001323355.2:c.54-60534_54-60523dup	NM_001323355.2:c.54-60536_54-60523dup	NM_001323355.2:c.54-60523_54-60522insTTTTTTTTTTTTTTT	NM_001323355.2:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTT	NM_001323355.2:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTT	NM_001323355.2:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTTT	NM_001323355.2:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTTTT
PTPRE transcript variant 7	NM_001323356.2:c.54-60536=	NM_001323356.2:c.54-60526_54-60523del	NM_001323356.2:c.54-60525_54-60523del	NM_001323356.2:c.54-60524_54-60523del	NM_001323356.2:c.54-60523del	NM_001323356.2:c.54-60523dup	NM_001323356.2:c.54-60524_54-60523dup	NM_001323356.2:c.54-60525_54-60523dup	NM_001323356.2:c.54-60532_54-60523dup	NM_001323356.2:c.54-60533_54-60523dup	NM_001323356.2:c.54-60534_54-60523dup	NM_001323356.2:c.54-60536_54-60523dup	NM_001323356.2:c.54-60523_54-60522insTTTTTTTTTTTTTTT	NM_001323356.2:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTT	NM_001323356.2:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTT	NM_001323356.2:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTTT	NM_001323356.2:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTTTT
PTPRE transcript variant 1	NM_006504.4:c.-30-1935=	NM_006504.4:c.-30-1925_-30-1922del	NM_006504.4:c.-30-1924_-30-1922del	NM_006504.4:c.-30-1923_-30-1922del	NM_006504.4:c.-30-1922del	NM_006504.4:c.-30-1922dup	NM_006504.4:c.-30-1923_-30-1922dup	NM_006504.4:c.-30-1924_-30-1922dup	NM_006504.4:c.-30-1931_-30-1922dup	NM_006504.4:c.-30-1932_-30-1922dup	NM_006504.4:c.-30-1933_-30-1922dup	NM_006504.4:c.-30-1935_-30-1922dup	NM_006504.4:c.-30-1922_-30-1921insTTTTTTTTTTTTTTT	NM_006504.4:c.-30-1922_-30-1921insTTTTTTTTTTTTTTTTTT	NM_006504.4:c.-30-1922_-30-1921insTTTTTTTTTTTTTTTTTTT	NM_006504.4:c.-30-1922_-30-1921insTTTTTTTTTTTTTTTTTTTT	NM_006504.4:c.-30-1922_-30-1921insTTTTTTTTTTTTTTTTTTTTT
PTPRE transcript variant 1	NM_006504.6:c.-30-1935=	NM_006504.6:c.-30-1925_-30-1922del	NM_006504.6:c.-30-1924_-30-1922del	NM_006504.6:c.-30-1923_-30-1922del	NM_006504.6:c.-30-1922del	NM_006504.6:c.-30-1922dup	NM_006504.6:c.-30-1923_-30-1922dup	NM_006504.6:c.-30-1924_-30-1922dup	NM_006504.6:c.-30-1931_-30-1922dup	NM_006504.6:c.-30-1932_-30-1922dup	NM_006504.6:c.-30-1933_-30-1922dup	NM_006504.6:c.-30-1935_-30-1922dup	NM_006504.6:c.-30-1922_-30-1921insTTTTTTTTTTTTTTT	NM_006504.6:c.-30-1922_-30-1921insTTTTTTTTTTTTTTTTTT	NM_006504.6:c.-30-1922_-30-1921insTTTTTTTTTTTTTTTTTTT	NM_006504.6:c.-30-1922_-30-1921insTTTTTTTTTTTTTTTTTTTT	NM_006504.6:c.-30-1922_-30-1921insTTTTTTTTTTTTTTTTTTTTT
PTPRE transcript variant X1	XM_005252688.1:c.54-60536=	XM_005252688.1:c.54-60526_54-60523del	XM_005252688.1:c.54-60525_54-60523del	XM_005252688.1:c.54-60524_54-60523del	XM_005252688.1:c.54-60523del	XM_005252688.1:c.54-60523dup	XM_005252688.1:c.54-60524_54-60523dup	XM_005252688.1:c.54-60525_54-60523dup	XM_005252688.1:c.54-60532_54-60523dup	XM_005252688.1:c.54-60533_54-60523dup	XM_005252688.1:c.54-60534_54-60523dup	XM_005252688.1:c.54-60536_54-60523dup	XM_005252688.1:c.54-60523_54-60522insTTTTTTTTTTTTTTT	XM_005252688.1:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTT	XM_005252688.1:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTT	XM_005252688.1:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTTT	XM_005252688.1:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTTTT
PTPRE transcript variant X2	XM_005252689.1:c.54-60536=	XM_005252689.1:c.54-60526_54-60523del	XM_005252689.1:c.54-60525_54-60523del	XM_005252689.1:c.54-60524_54-60523del	XM_005252689.1:c.54-60523del	XM_005252689.1:c.54-60523dup	XM_005252689.1:c.54-60524_54-60523dup	XM_005252689.1:c.54-60525_54-60523dup	XM_005252689.1:c.54-60532_54-60523dup	XM_005252689.1:c.54-60533_54-60523dup	XM_005252689.1:c.54-60534_54-60523dup	XM_005252689.1:c.54-60536_54-60523dup	XM_005252689.1:c.54-60523_54-60522insTTTTTTTTTTTTTTT	XM_005252689.1:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTT	XM_005252689.1:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTT	XM_005252689.1:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTTT	XM_005252689.1:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTTTT
PTPRE transcript variant X2	XM_011539994.3:c.54-60536=	XM_011539994.3:c.54-60526_54-60523del	XM_011539994.3:c.54-60525_54-60523del	XM_011539994.3:c.54-60524_54-60523del	XM_011539994.3:c.54-60523del	XM_011539994.3:c.54-60523dup	XM_011539994.3:c.54-60524_54-60523dup	XM_011539994.3:c.54-60525_54-60523dup	XM_011539994.3:c.54-60532_54-60523dup	XM_011539994.3:c.54-60533_54-60523dup	XM_011539994.3:c.54-60534_54-60523dup	XM_011539994.3:c.54-60536_54-60523dup	XM_011539994.3:c.54-60523_54-60522insTTTTTTTTTTTTTTT	XM_011539994.3:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTT	XM_011539994.3:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTT	XM_011539994.3:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTTT	XM_011539994.3:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTTTT
PTPRE transcript variant X3	XM_011539995.2:c.54-60536=	XM_011539995.2:c.54-60526_54-60523del	XM_011539995.2:c.54-60525_54-60523del	XM_011539995.2:c.54-60524_54-60523del	XM_011539995.2:c.54-60523del	XM_011539995.2:c.54-60523dup	XM_011539995.2:c.54-60524_54-60523dup	XM_011539995.2:c.54-60525_54-60523dup	XM_011539995.2:c.54-60532_54-60523dup	XM_011539995.2:c.54-60533_54-60523dup	XM_011539995.2:c.54-60534_54-60523dup	XM_011539995.2:c.54-60536_54-60523dup	XM_011539995.2:c.54-60523_54-60522insTTTTTTTTTTTTTTT	XM_011539995.2:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTT	XM_011539995.2:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTT	XM_011539995.2:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTTT	XM_011539995.2:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTTTT
PTPRE transcript variant X4	XM_011539996.2:c.54-60536=	XM_011539996.2:c.54-60526_54-60523del	XM_011539996.2:c.54-60525_54-60523del	XM_011539996.2:c.54-60524_54-60523del	XM_011539996.2:c.54-60523del	XM_011539996.2:c.54-60523dup	XM_011539996.2:c.54-60524_54-60523dup	XM_011539996.2:c.54-60525_54-60523dup	XM_011539996.2:c.54-60532_54-60523dup	XM_011539996.2:c.54-60533_54-60523dup	XM_011539996.2:c.54-60534_54-60523dup	XM_011539996.2:c.54-60536_54-60523dup	XM_011539996.2:c.54-60523_54-60522insTTTTTTTTTTTTTTT	XM_011539996.2:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTT	XM_011539996.2:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTT	XM_011539996.2:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTTT	XM_011539996.2:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTTTT
PTPRE transcript variant X14	XM_011539998.2:c.54-60536=	XM_011539998.2:c.54-60526_54-60523del	XM_011539998.2:c.54-60525_54-60523del	XM_011539998.2:c.54-60524_54-60523del	XM_011539998.2:c.54-60523del	XM_011539998.2:c.54-60523dup	XM_011539998.2:c.54-60524_54-60523dup	XM_011539998.2:c.54-60525_54-60523dup	XM_011539998.2:c.54-60532_54-60523dup	XM_011539998.2:c.54-60533_54-60523dup	XM_011539998.2:c.54-60534_54-60523dup	XM_011539998.2:c.54-60536_54-60523dup	XM_011539998.2:c.54-60523_54-60522insTTTTTTTTTTTTTTT	XM_011539998.2:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTT	XM_011539998.2:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTT	XM_011539998.2:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTTT	XM_011539998.2:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTTTT
PTPRE transcript variant X1	XM_017016467.2:c.54-60536=	XM_017016467.2:c.54-60526_54-60523del	XM_017016467.2:c.54-60525_54-60523del	XM_017016467.2:c.54-60524_54-60523del	XM_017016467.2:c.54-60523del	XM_017016467.2:c.54-60523dup	XM_017016467.2:c.54-60524_54-60523dup	XM_017016467.2:c.54-60525_54-60523dup	XM_017016467.2:c.54-60532_54-60523dup	XM_017016467.2:c.54-60533_54-60523dup	XM_017016467.2:c.54-60534_54-60523dup	XM_017016467.2:c.54-60536_54-60523dup	XM_017016467.2:c.54-60523_54-60522insTTTTTTTTTTTTTTT	XM_017016467.2:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTT	XM_017016467.2:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTT	XM_017016467.2:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTTT	XM_017016467.2:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTTTT
PTPRE transcript variant X12	XM_017016469.3:c.54-60536=	XM_017016469.3:c.54-60526_54-60523del	XM_017016469.3:c.54-60525_54-60523del	XM_017016469.3:c.54-60524_54-60523del	XM_017016469.3:c.54-60523del	XM_017016469.3:c.54-60523dup	XM_017016469.3:c.54-60524_54-60523dup	XM_017016469.3:c.54-60525_54-60523dup	XM_017016469.3:c.54-60532_54-60523dup	XM_017016469.3:c.54-60533_54-60523dup	XM_017016469.3:c.54-60534_54-60523dup	XM_017016469.3:c.54-60536_54-60523dup	XM_017016469.3:c.54-60523_54-60522insTTTTTTTTTTTTTTT	XM_017016469.3:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTT	XM_017016469.3:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTT	XM_017016469.3:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTTT	XM_017016469.3:c.54-60523_54-60522insTTTTTTTTTTTTTTTTTTTTT
PTPRE transcript variant X5	XM_047425577.1:c.64-1935=	XM_047425577.1:c.64-1925_64-1922del	XM_047425577.1:c.64-1924_64-1922del	XM_047425577.1:c.64-1923_64-1922del	XM_047425577.1:c.64-1922del	XM_047425577.1:c.64-1922dup	XM_047425577.1:c.64-1923_64-1922dup	XM_047425577.1:c.64-1924_64-1922dup	XM_047425577.1:c.64-1931_64-1922dup	XM_047425577.1:c.64-1932_64-1922dup	XM_047425577.1:c.64-1933_64-1922dup	XM_047425577.1:c.64-1935_64-1922dup	XM_047425577.1:c.64-1922_64-1921insTTTTTTTTTTTTTTT	XM_047425577.1:c.64-1922_64-1921insTTTTTTTTTTTTTTTTTT	XM_047425577.1:c.64-1922_64-1921insTTTTTTTTTTTTTTTTTTT	XM_047425577.1:c.64-1922_64-1921insTTTTTTTTTTTTTTTTTTTT	XM_047425577.1:c.64-1922_64-1921insTTTTTTTTTTTTTTTTTTTTT
PTPRE transcript variant X7	XM_047425578.1:c.-30-1935=	XM_047425578.1:c.-30-1925_-30-1922del	XM_047425578.1:c.-30-1924_-30-1922del	XM_047425578.1:c.-30-1923_-30-1922del	XM_047425578.1:c.-30-1922del	XM_047425578.1:c.-30-1922dup	XM_047425578.1:c.-30-1923_-30-1922dup	XM_047425578.1:c.-30-1924_-30-1922dup	XM_047425578.1:c.-30-1931_-30-1922dup	XM_047425578.1:c.-30-1932_-30-1922dup	XM_047425578.1:c.-30-1933_-30-1922dup	XM_047425578.1:c.-30-1935_-30-1922dup	XM_047425578.1:c.-30-1922_-30-1921insTTTTTTTTTTTTTTT	XM_047425578.1:c.-30-1922_-30-1921insTTTTTTTTTTTTTTTTTT	XM_047425578.1:c.-30-1922_-30-1921insTTTTTTTTTTTTTTTTTTT	XM_047425578.1:c.-30-1922_-30-1921insTTTTTTTTTTTTTTTTTTTT	XM_047425578.1:c.-30-1922_-30-1921insTTTTTTTTTTTTTTTTTTTTT

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#.

58 SubSNP, 33 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCMHGSC_JDW	ss103518154	Feb 23, 2009 (130)
2	GMI	ss287868044	May 09, 2011 (135)
3	GMI	ss289045143	May 04, 2012 (138)
4	SSMP	ss663962560	Apr 01, 2015 (144)
5	1000GENOMES	ss1370285983	Aug 21, 2014 (142)
6	HAMMER_LAB	ss1806628657	Sep 08, 2015 (146)
7	SWEGEN	ss3007354382	Nov 08, 2017 (151)
8	EVA_DECODE	ss3690937549	Jul 13, 2019 (153)
9	EVA_DECODE	ss3690937550	Jul 13, 2019 (153)
10	EVA_DECODE	ss3690937551	Jul 13, 2019 (153)
11	EVA_DECODE	ss3690937552	Jul 13, 2019 (153)
12	EVA_DECODE	ss3690937553	Jul 13, 2019 (153)
13	EVA_DECODE	ss3690937554	Jul 13, 2019 (153)
14	ACPOP	ss3737791171	Jul 13, 2019 (153)
15	ACPOP	ss3737791172	Jul 13, 2019 (153)
16	ACPOP	ss3737791173	Jul 13, 2019 (153)
17	ACPOP	ss3737791174	Jul 13, 2019 (153)
18	PACBIO	ss3786824019	Jul 13, 2019 (153)
19	KHV_HUMAN_GENOMES	ss3814121793	Jul 13, 2019 (153)
20	EVA	ss3832400530	Apr 26, 2020 (154)
21	EVA	ss3839742235	Apr 26, 2020 (154)
22	EVA	ss3845217761	Apr 26, 2020 (154)
23	KOGIC	ss3968930508	Apr 26, 2020 (154)
24	KOGIC	ss3968930509	Apr 26, 2020 (154)
25	KOGIC	ss3968930510	Apr 26, 2020 (154)
26	KOGIC	ss3968930511	Apr 26, 2020 (154)
27	GNOMAD	ss4227830232	Apr 26, 2021 (155)
28	GNOMAD	ss4227830233	Apr 26, 2021 (155)
29	GNOMAD	ss4227830234	Apr 26, 2021 (155)
30	GNOMAD	ss4227830235	Apr 26, 2021 (155)
31	GNOMAD	ss4227830236	Apr 26, 2021 (155)
32	GNOMAD	ss4227830237	Apr 26, 2021 (155)
33	GNOMAD	ss4227830238	Apr 26, 2021 (155)
34	GNOMAD	ss4227830239	Apr 26, 2021 (155)
35	GNOMAD	ss4227830240	Apr 26, 2021 (155)
36	GNOMAD	ss4227830241	Apr 26, 2021 (155)
37	GNOMAD	ss4227830242	Apr 26, 2021 (155)
38	GNOMAD	ss4227830243	Apr 26, 2021 (155)
39	GNOMAD	ss4227830244	Apr 26, 2021 (155)
40	GNOMAD	ss4227830245	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5200042430	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5200042431	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5200042432	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5200042433	Apr 26, 2021 (155)
45	1000G_HIGH_COVERAGE	ss5285913849	Oct 16, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5285913850	Oct 16, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5285913851	Oct 16, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5285913852	Oct 16, 2022 (156)
49	HUGCELL_USP	ss5481293056	Oct 16, 2022 (156)
50	HUGCELL_USP	ss5481293057	Oct 16, 2022 (156)
51	HUGCELL_USP	ss5481293058	Oct 16, 2022 (156)
52	HUGCELL_USP	ss5481293059	Oct 16, 2022 (156)
53	TOMMO_GENOMICS	ss5746588292	Oct 16, 2022 (156)
54	TOMMO_GENOMICS	ss5746588293	Oct 16, 2022 (156)
55	TOMMO_GENOMICS	ss5746588294	Oct 16, 2022 (156)
56	TOMMO_GENOMICS	ss5746588295	Oct 16, 2022 (156)
57	EVA	ss5825135293	Oct 16, 2022 (156)
58	EVA	ss5881049225	Oct 16, 2022 (156)
59	1000Genomes	NC_000010.10 - 129778603	Oct 12, 2018 (152)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367570818 (NC_000010.11:127980338::T 9047/132336) Row 367570819 (NC_000010.11:127980338::TT 16/132388) Row 367570820 (NC_000010.11:127980338::TTTTTTTTTT 1/132388)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367570818 (NC_000010.11:127980338::T 9047/132336) Row 367570819 (NC_000010.11:127980338::TT 16/132388) Row 367570820 (NC_000010.11:127980338::TTTTTTTTTT 1/132388)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367570818 (NC_000010.11:127980338::T 9047/132336) Row 367570819 (NC_000010.11:127980338::TT 16/132388) Row 367570820 (NC_000010.11:127980338::TTTTTTTTTT 1/132388)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367570818 (NC_000010.11:127980338::T 9047/132336) Row 367570819 (NC_000010.11:127980338::TT 16/132388) Row 367570820 (NC_000010.11:127980338::TTTTTTTTTT 1/132388)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367570818 (NC_000010.11:127980338::T 9047/132336) Row 367570819 (NC_000010.11:127980338::TT 16/132388) Row 367570820 (NC_000010.11:127980338::TTTTTTTTTT 1/132388)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367570818 (NC_000010.11:127980338::T 9047/132336) Row 367570819 (NC_000010.11:127980338::TT 16/132388) Row 367570820 (NC_000010.11:127980338::TTTTTTTTTT 1/132388)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367570818 (NC_000010.11:127980338::T 9047/132336) Row 367570819 (NC_000010.11:127980338::TT 16/132388) Row 367570820 (NC_000010.11:127980338::TTTTTTTTTT 1/132388)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367570818 (NC_000010.11:127980338::T 9047/132336) Row 367570819 (NC_000010.11:127980338::TT 16/132388) Row 367570820 (NC_000010.11:127980338::TTTTTTTTTT 1/132388)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367570818 (NC_000010.11:127980338::T 9047/132336) Row 367570819 (NC_000010.11:127980338::TT 16/132388) Row 367570820 (NC_000010.11:127980338::TTTTTTTTTT 1/132388)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367570818 (NC_000010.11:127980338::T 9047/132336) Row 367570819 (NC_000010.11:127980338::TT 16/132388) Row 367570820 (NC_000010.11:127980338::TTTTTTTTTT 1/132388)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367570818 (NC_000010.11:127980338::T 9047/132336) Row 367570819 (NC_000010.11:127980338::TT 16/132388) Row 367570820 (NC_000010.11:127980338::TTTTTTTTTT 1/132388)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367570818 (NC_000010.11:127980338::T 9047/132336) Row 367570819 (NC_000010.11:127980338::TT 16/132388) Row 367570820 (NC_000010.11:127980338::TTTTTTTTTT 1/132388)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367570818 (NC_000010.11:127980338::T 9047/132336) Row 367570819 (NC_000010.11:127980338::TT 16/132388) Row 367570820 (NC_000010.11:127980338::TTTTTTTTTT 1/132388)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367570818 (NC_000010.11:127980338::T 9047/132336) Row 367570819 (NC_000010.11:127980338::TT 16/132388) Row 367570820 (NC_000010.11:127980338::TTTTTTTTTT 1/132388)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367570818 (NC_000010.11:127980338::T 9047/132336) Row 367570819 (NC_000010.11:127980338::TT 16/132388) Row 367570820 (NC_000010.11:127980338::TTTTTTTTTT 1/132388)...	-	Apr 26, 2021 (155)
75	Korean Genome Project Submission ignored due to conflicting rows: Row 25308509 (NC_000010.11:127980338:TTT: 353/1832) Row 25308510 (NC_000010.11:127980340:T: 92/1832) Row 25308511 (NC_000010.11:127980341::T 53/1832)...	-	Apr 26, 2020 (154)
76	Korean Genome Project Submission ignored due to conflicting rows: Row 25308509 (NC_000010.11:127980338:TTT: 353/1832) Row 25308510 (NC_000010.11:127980340:T: 92/1832) Row 25308511 (NC_000010.11:127980341::T 53/1832)...	-	Apr 26, 2020 (154)
77	Korean Genome Project Submission ignored due to conflicting rows: Row 25308509 (NC_000010.11:127980338:TTT: 353/1832) Row 25308510 (NC_000010.11:127980340:T: 92/1832) Row 25308511 (NC_000010.11:127980341::T 53/1832)...	-	Apr 26, 2020 (154)
78	Korean Genome Project Submission ignored due to conflicting rows: Row 25308509 (NC_000010.11:127980338:TTT: 353/1832) Row 25308510 (NC_000010.11:127980340:T: 92/1832) Row 25308511 (NC_000010.11:127980341::T 53/1832)...	-	Apr 26, 2020 (154)
79	Northern Sweden Submission ignored due to conflicting rows: Row 11076036 (NC_000010.10:129778602:TTT: 103/600) Row 11076037 (NC_000010.10:129778602::T 20/600) Row 11076038 (NC_000010.10:129778602:T: 19/600)...	-	Jul 13, 2019 (153)
80	Northern Sweden Submission ignored due to conflicting rows: Row 11076036 (NC_000010.10:129778602:TTT: 103/600) Row 11076037 (NC_000010.10:129778602::T 20/600) Row 11076038 (NC_000010.10:129778602:T: 19/600)...	-	Jul 13, 2019 (153)
81	Northern Sweden Submission ignored due to conflicting rows: Row 11076036 (NC_000010.10:129778602:TTT: 103/600) Row 11076037 (NC_000010.10:129778602::T 20/600) Row 11076038 (NC_000010.10:129778602:T: 19/600)...	-	Jul 13, 2019 (153)
82	Northern Sweden Submission ignored due to conflicting rows: Row 11076036 (NC_000010.10:129778602:TTT: 103/600) Row 11076037 (NC_000010.10:129778602::T 20/600) Row 11076038 (NC_000010.10:129778602:T: 19/600)...	-	Jul 13, 2019 (153)
83	8.3KJPN Submission ignored due to conflicting rows: Row 58011737 (NC_000010.10:129778602:TTT: 3268/16760) Row 58011738 (NC_000010.10:129778602::T 85/16760) Row 58011739 (NC_000010.10:129778602:TTTT: 12/16760)...	-	Apr 26, 2021 (155)
84	8.3KJPN Submission ignored due to conflicting rows: Row 58011737 (NC_000010.10:129778602:TTT: 3268/16760) Row 58011738 (NC_000010.10:129778602::T 85/16760) Row 58011739 (NC_000010.10:129778602:TTTT: 12/16760)...	-	Apr 26, 2021 (155)
85	8.3KJPN Submission ignored due to conflicting rows: Row 58011737 (NC_000010.10:129778602:TTT: 3268/16760) Row 58011738 (NC_000010.10:129778602::T 85/16760) Row 58011739 (NC_000010.10:129778602:TTTT: 12/16760)...	-	Apr 26, 2021 (155)
86	8.3KJPN Submission ignored due to conflicting rows: Row 58011737 (NC_000010.10:129778602:TTT: 3268/16760) Row 58011738 (NC_000010.10:129778602::T 85/16760) Row 58011739 (NC_000010.10:129778602:TTTT: 12/16760)...	-	Apr 26, 2021 (155)
87	14KJPN Submission ignored due to conflicting rows: Row 80425396 (NC_000010.11:127980338:TTT: 5588/28258) Row 80425397 (NC_000010.11:127980338:T: 206/28258) Row 80425398 (NC_000010.11:127980338::T 124/28258)...	-	Oct 16, 2022 (156)
88	14KJPN Submission ignored due to conflicting rows: Row 80425396 (NC_000010.11:127980338:TTT: 5588/28258) Row 80425397 (NC_000010.11:127980338:T: 206/28258) Row 80425398 (NC_000010.11:127980338::T 124/28258)...	-	Oct 16, 2022 (156)
89	14KJPN Submission ignored due to conflicting rows: Row 80425396 (NC_000010.11:127980338:TTT: 5588/28258) Row 80425397 (NC_000010.11:127980338:T: 206/28258) Row 80425398 (NC_000010.11:127980338::T 124/28258)...	-	Oct 16, 2022 (156)
90	14KJPN Submission ignored due to conflicting rows: Row 80425396 (NC_000010.11:127980338:TTT: 5588/28258) Row 80425397 (NC_000010.11:127980338:T: 206/28258) Row 80425398 (NC_000010.11:127980338::T 124/28258)...	-	Oct 16, 2022 (156)
91	ALFA	NC_000010.11 - 127980339	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)
rs139477348	Oct 11, 2011 (135)
rs201581509	Apr 25, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3007354382, ss5200042432	NC_000010.10:129778602:TTTT:	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss3690937549, ss4227830245, ss5746588295	NC_000010.11:127980338:TTTT:	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTT	(self)
8373023525	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTT	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss289045143	NC_000010.9:129668592:TTT:	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
52035563, ss663962560, ss1370285983, ss1806628657, ss3737791171, ss3839742235, ss5200042430, ss5825135293	NC_000010.10:129778602:TTT:	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss3814121793, ss3845217761, ss3968930508, ss4227830244, ss5285913849, ss5481293058, ss5746588292, ss5881049225	NC_000010.11:127980338:TTT:	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
8373023525	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss3690937550	NC_000010.11:127980339:TTT:	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss287868044	NT_008818.16:1012533:TTT:	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss103518154	NT_008818.16:1012544:TTT:	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss3737791174	NC_000010.10:129778602:TT:	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4227830243, ss5285913851, ss5481293059	NC_000010.11:127980338:TT:	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
8373023525	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3968930511	NC_000010.11:127980339:TT:	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3690937551	NC_000010.11:127980340:TT:	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3737791173, ss3832400530, ss5200042433	NC_000010.10:129778602:T:	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss5285913850, ss5481293057, ss5746588293	NC_000010.11:127980338:T:	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
8373023525	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3968930509	NC_000010.11:127980340:T:	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3690937552	NC_000010.11:127980341:T:	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3737791172, ss3786824019, ss5200042431	NC_000010.10:129778602::T	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4227830232, ss5285913852, ss5481293056, ss5746588294	NC_000010.11:127980338::T	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
8373023525	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3968930510	NC_000010.11:127980341::T	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3690937553	NC_000010.11:127980342::T	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4227830233	NC_000010.11:127980338::TT	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
8373023525	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
8373023525	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3690937554	NC_000010.11:127980342::TTT	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4227830234	NC_000010.11:127980338::TTTTTTTTTT	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4227830235	NC_000010.11:127980338::TTTTTTTTTTT	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
8373023525	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4227830236	NC_000010.11:127980338::TTTTTTTTTT… NC_000010.11:127980338::TTTTTTTTTTTT	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
8373023525	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4227830237	NC_000010.11:127980338::TTTTTTTTTT… NC_000010.11:127980338::TTTTTTTTTTTTTT	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4227830238	NC_000010.11:127980338::TTTTTTTTTT… NC_000010.11:127980338::TTTTTTTTTTTTTTT	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4227830239	NC_000010.11:127980338::TTTTTTTTTT… NC_000010.11:127980338::TTTTTTTTTTTTTTTTTT	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4227830240	NC_000010.11:127980338::TTTTTTTTTT… NC_000010.11:127980338::TTTTTTTTTTTTTTTTTTT	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4227830241	NC_000010.11:127980338::TTTTTTTTTT… NC_000010.11:127980338::TTTTTTTTTTTTTTTTTTTT	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4227830242	NC_000010.11:127980338::TTTTTTTTTT… NC_000010.11:127980338::TTTTTTTTTTTTTTTTTTTTT	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3133651128	NC_000010.11:127980338::TTT	NC_000010.11:127980338:TTTTTTTTTTT… NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

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

No publications for rs11336623

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

rs11336623