Name: rs56859505
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.

rs56859505

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:132757826-132757847 (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)₁₀ / del(A)₉ / del(A)₈ / del…
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
Variation Type: Indel Insertion and Deletion
Frequency: delA=0.2856 (1620/5672, ALFA)
delAAA=0.3740 (1873/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TMEM71 : 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	5672	AAAAAAAAAAAAAAAAAAAAAA=0.5090	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0196, AAAAAAAAAAAAAAAAAAA=0.1782, AAAAAAAAAAAAAAAAAAAA=0.0014, AAAAAAAAAAAAAAAAAAAAA=0.2856, AAAAAAAAAAAAAAAAAAAAAAA=0.0062, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.475793	0.1202	0.404007	6
European	Sub	5036	AAAAAAAAAAAAAAAAAAAAAA=0.4476	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0220, AAAAAAAAAAAAAAAAAAA=0.2008, AAAAAAAAAAAAAAAAAAAA=0.0016, AAAAAAAAAAAAAAAAAAAAA=0.3211, AAAAAAAAAAAAAAAAAAAAAAA=0.0069, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.364435	0.145368	0.490196	1
African	Sub	498	AAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	10	AAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African American	Sub	488	AAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	4	AAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	4	AAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	16	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	50	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	2	AAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	66	AAAAAAAAAAAAAAAAAAAAAA=0.95	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.05, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	0.939394	0.030303	0.030303	8

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	5672	(A)₂₂=0.5090	del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₅=0.0000, del(A)₄=0.0196, delAAA=0.1782, delAA=0.0014, delA=0.2856, dupA=0.0062, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	European	Sub	5036	(A)₂₂=0.4476	del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₅=0.0000, del(A)₄=0.0220, delAAA=0.2008, delAA=0.0016, delA=0.3211, dupA=0.0069, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	African	Sub	498	(A)₂₂=1.000	del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=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, dupAAA=0.000
Allele Frequency Aggregator	Other	Sub	66	(A)₂₂=0.95	del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.05, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Latin American 2	Sub	50	(A)₂₂=1.00	del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=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, dupAAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	16	(A)₂₂=1.00	del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=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, dupAAA=0.00
Allele Frequency Aggregator	Asian	Sub	4	(A)₂₂=1.0	del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=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, dupAAA=0.0
Allele Frequency Aggregator	South Asian	Sub	2	(A)₂₂=1.0	del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=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, dupAAA=0.0
1000Genomes	Global	Study-wide	5008	(A)₂₂=0.6260	delAAA=0.3740
1000Genomes	African	Sub	1322	(A)₂₂=0.8169	delAAA=0.1831
1000Genomes	East Asian	Sub	1008	(A)₂₂=0.4980	delAAA=0.5020
1000Genomes	Europe	Sub	1006	(A)₂₂=0.6163	delAAA=0.3837
1000Genomes	South Asian	Sub	978	(A)₂₂=0.500	delAAA=0.500
1000Genomes	American	Sub	694	(A)₂₂=0.640	delAAA=0.360

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 8	NC_000008.11:g.132757838_132757847del
GRCh38.p14 chr 8	NC_000008.11:g.132757839_132757847del
GRCh38.p14 chr 8	NC_000008.11:g.132757840_132757847del
GRCh38.p14 chr 8	NC_000008.11:g.132757841_132757847del
GRCh38.p14 chr 8	NC_000008.11:g.132757842_132757847del
GRCh38.p14 chr 8	NC_000008.11:g.132757843_132757847del
GRCh38.p14 chr 8	NC_000008.11:g.132757844_132757847del
GRCh38.p14 chr 8	NC_000008.11:g.132757845_132757847del
GRCh38.p14 chr 8	NC_000008.11:g.132757846_132757847del
GRCh38.p14 chr 8	NC_000008.11:g.132757847del
GRCh38.p14 chr 8	NC_000008.11:g.132757847dup
GRCh38.p14 chr 8	NC_000008.11:g.132757846_132757847dup
GRCh38.p14 chr 8	NC_000008.11:g.132757845_132757847dup
GRCh38.p14 chr 8	NC_000008.11:g.132757844_132757847dup
GRCh37.p13 chr 8	NC_000008.10:g.133770084_133770093del
GRCh37.p13 chr 8	NC_000008.10:g.133770085_133770093del
GRCh37.p13 chr 8	NC_000008.10:g.133770086_133770093del
GRCh37.p13 chr 8	NC_000008.10:g.133770087_133770093del
GRCh37.p13 chr 8	NC_000008.10:g.133770088_133770093del
GRCh37.p13 chr 8	NC_000008.10:g.133770089_133770093del
GRCh37.p13 chr 8	NC_000008.10:g.133770090_133770093del
GRCh37.p13 chr 8	NC_000008.10:g.133770091_133770093del
GRCh37.p13 chr 8	NC_000008.10:g.133770092_133770093del
GRCh37.p13 chr 8	NC_000008.10:g.133770093del
GRCh37.p13 chr 8	NC_000008.10:g.133770093dup
GRCh37.p13 chr 8	NC_000008.10:g.133770092_133770093dup
GRCh37.p13 chr 8	NC_000008.10:g.133770091_133770093dup
GRCh37.p13 chr 8	NC_000008.10:g.133770090_133770093dup

Gene: TMEM71, transmembrane protein 71 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TMEM71 transcript variant 2	NM_001145153.2:c.41-541_4… NM_001145153.2:c.41-541_41-532del	N/A	Intron Variant
TMEM71 transcript variant 3	NM_001364885.2:c.41-541_4… NM_001364885.2:c.41-541_41-532del	N/A	Intron Variant
TMEM71 transcript variant 4	NM_001382396.1:c.41-541_4… NM_001382396.1:c.41-541_41-532del	N/A	Intron Variant
TMEM71 transcript variant 5	NM_001382397.1:c.41-541_4… NM_001382397.1:c.41-541_41-532del	N/A	Intron Variant
TMEM71 transcript variant 6	NM_001382398.1:c.41-541_4… NM_001382398.1:c.41-541_41-532del	N/A	Intron Variant
TMEM71 transcript variant 7	NM_001382399.1:c.47-541_4… NM_001382399.1:c.47-541_47-532del	N/A	Intron Variant
TMEM71 transcript variant 8	NM_001382400.1:c.47-541_4… NM_001382400.1:c.47-541_47-532del	N/A	Intron Variant
TMEM71 transcript variant 10	NM_001382401.1:c.25+148_2… NM_001382401.1:c.25+148_25+157del	N/A	Intron Variant
TMEM71 transcript variant 11	NM_001382402.1:c.41-541_4… NM_001382402.1:c.41-541_41-532del	N/A	Intron Variant
TMEM71 transcript variant 9	NM_001382403.1:c.41-541_4… NM_001382403.1:c.41-541_41-532del	N/A	Intron Variant
TMEM71 transcript variant 12	NM_001382404.1:c.41-541_4… NM_001382404.1:c.41-541_41-532del	N/A	Intron Variant
TMEM71 transcript variant 13	NM_001382405.1:c.41-541_4… NM_001382405.1:c.41-541_41-532del	N/A	Intron Variant
TMEM71 transcript variant 1	NM_144649.3:c.41-541_41-5… NM_144649.3:c.41-541_41-532del	N/A	Intron Variant
TMEM71 transcript variant X1	XM_047421363.1:c.41-541_4… XM_047421363.1:c.41-541_41-532del	N/A	Intron 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)₂₂=	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
GRCh38.p14 chr 8	NC_000008.11:g.132757826_132757847=	NC_000008.11:g.132757838_132757847del	NC_000008.11:g.132757839_132757847del	NC_000008.11:g.132757840_132757847del	NC_000008.11:g.132757841_132757847del	NC_000008.11:g.132757842_132757847del	NC_000008.11:g.132757843_132757847del	NC_000008.11:g.132757844_132757847del	NC_000008.11:g.132757845_132757847del	NC_000008.11:g.132757846_132757847del	NC_000008.11:g.132757847del	NC_000008.11:g.132757847dup	NC_000008.11:g.132757846_132757847dup	NC_000008.11:g.132757845_132757847dup	NC_000008.11:g.132757844_132757847dup
GRCh37.p13 chr 8	NC_000008.10:g.133770072_133770093=	NC_000008.10:g.133770084_133770093del	NC_000008.10:g.133770085_133770093del	NC_000008.10:g.133770086_133770093del	NC_000008.10:g.133770087_133770093del	NC_000008.10:g.133770088_133770093del	NC_000008.10:g.133770089_133770093del	NC_000008.10:g.133770090_133770093del	NC_000008.10:g.133770091_133770093del	NC_000008.10:g.133770092_133770093del	NC_000008.10:g.133770093del	NC_000008.10:g.133770093dup	NC_000008.10:g.133770092_133770093dup	NC_000008.10:g.133770091_133770093dup	NC_000008.10:g.133770090_133770093dup
TMEM71 transcript variant 2	NM_001145153.1:c.41-532=	NM_001145153.1:c.41-541_41-532del	NM_001145153.1:c.41-540_41-532del	NM_001145153.1:c.41-539_41-532del	NM_001145153.1:c.41-538_41-532del	NM_001145153.1:c.41-537_41-532del	NM_001145153.1:c.41-536_41-532del	NM_001145153.1:c.41-535_41-532del	NM_001145153.1:c.41-534_41-532del	NM_001145153.1:c.41-533_41-532del	NM_001145153.1:c.41-532del	NM_001145153.1:c.41-532dup	NM_001145153.1:c.41-533_41-532dup	NM_001145153.1:c.41-534_41-532dup	NM_001145153.1:c.41-535_41-532dup
TMEM71 transcript variant 2	NM_001145153.2:c.41-532=	NM_001145153.2:c.41-541_41-532del	NM_001145153.2:c.41-540_41-532del	NM_001145153.2:c.41-539_41-532del	NM_001145153.2:c.41-538_41-532del	NM_001145153.2:c.41-537_41-532del	NM_001145153.2:c.41-536_41-532del	NM_001145153.2:c.41-535_41-532del	NM_001145153.2:c.41-534_41-532del	NM_001145153.2:c.41-533_41-532del	NM_001145153.2:c.41-532del	NM_001145153.2:c.41-532dup	NM_001145153.2:c.41-533_41-532dup	NM_001145153.2:c.41-534_41-532dup	NM_001145153.2:c.41-535_41-532dup
TMEM71 transcript variant 3	NM_001364885.2:c.41-532=	NM_001364885.2:c.41-541_41-532del	NM_001364885.2:c.41-540_41-532del	NM_001364885.2:c.41-539_41-532del	NM_001364885.2:c.41-538_41-532del	NM_001364885.2:c.41-537_41-532del	NM_001364885.2:c.41-536_41-532del	NM_001364885.2:c.41-535_41-532del	NM_001364885.2:c.41-534_41-532del	NM_001364885.2:c.41-533_41-532del	NM_001364885.2:c.41-532del	NM_001364885.2:c.41-532dup	NM_001364885.2:c.41-533_41-532dup	NM_001364885.2:c.41-534_41-532dup	NM_001364885.2:c.41-535_41-532dup
TMEM71 transcript variant 4	NM_001382396.1:c.41-532=	NM_001382396.1:c.41-541_41-532del	NM_001382396.1:c.41-540_41-532del	NM_001382396.1:c.41-539_41-532del	NM_001382396.1:c.41-538_41-532del	NM_001382396.1:c.41-537_41-532del	NM_001382396.1:c.41-536_41-532del	NM_001382396.1:c.41-535_41-532del	NM_001382396.1:c.41-534_41-532del	NM_001382396.1:c.41-533_41-532del	NM_001382396.1:c.41-532del	NM_001382396.1:c.41-532dup	NM_001382396.1:c.41-533_41-532dup	NM_001382396.1:c.41-534_41-532dup	NM_001382396.1:c.41-535_41-532dup
TMEM71 transcript variant 5	NM_001382397.1:c.41-532=	NM_001382397.1:c.41-541_41-532del	NM_001382397.1:c.41-540_41-532del	NM_001382397.1:c.41-539_41-532del	NM_001382397.1:c.41-538_41-532del	NM_001382397.1:c.41-537_41-532del	NM_001382397.1:c.41-536_41-532del	NM_001382397.1:c.41-535_41-532del	NM_001382397.1:c.41-534_41-532del	NM_001382397.1:c.41-533_41-532del	NM_001382397.1:c.41-532del	NM_001382397.1:c.41-532dup	NM_001382397.1:c.41-533_41-532dup	NM_001382397.1:c.41-534_41-532dup	NM_001382397.1:c.41-535_41-532dup
TMEM71 transcript variant 6	NM_001382398.1:c.41-532=	NM_001382398.1:c.41-541_41-532del	NM_001382398.1:c.41-540_41-532del	NM_001382398.1:c.41-539_41-532del	NM_001382398.1:c.41-538_41-532del	NM_001382398.1:c.41-537_41-532del	NM_001382398.1:c.41-536_41-532del	NM_001382398.1:c.41-535_41-532del	NM_001382398.1:c.41-534_41-532del	NM_001382398.1:c.41-533_41-532del	NM_001382398.1:c.41-532del	NM_001382398.1:c.41-532dup	NM_001382398.1:c.41-533_41-532dup	NM_001382398.1:c.41-534_41-532dup	NM_001382398.1:c.41-535_41-532dup
TMEM71 transcript variant 7	NM_001382399.1:c.47-532=	NM_001382399.1:c.47-541_47-532del	NM_001382399.1:c.47-540_47-532del	NM_001382399.1:c.47-539_47-532del	NM_001382399.1:c.47-538_47-532del	NM_001382399.1:c.47-537_47-532del	NM_001382399.1:c.47-536_47-532del	NM_001382399.1:c.47-535_47-532del	NM_001382399.1:c.47-534_47-532del	NM_001382399.1:c.47-533_47-532del	NM_001382399.1:c.47-532del	NM_001382399.1:c.47-532dup	NM_001382399.1:c.47-533_47-532dup	NM_001382399.1:c.47-534_47-532dup	NM_001382399.1:c.47-535_47-532dup
TMEM71 transcript variant 8	NM_001382400.1:c.47-532=	NM_001382400.1:c.47-541_47-532del	NM_001382400.1:c.47-540_47-532del	NM_001382400.1:c.47-539_47-532del	NM_001382400.1:c.47-538_47-532del	NM_001382400.1:c.47-537_47-532del	NM_001382400.1:c.47-536_47-532del	NM_001382400.1:c.47-535_47-532del	NM_001382400.1:c.47-534_47-532del	NM_001382400.1:c.47-533_47-532del	NM_001382400.1:c.47-532del	NM_001382400.1:c.47-532dup	NM_001382400.1:c.47-533_47-532dup	NM_001382400.1:c.47-534_47-532dup	NM_001382400.1:c.47-535_47-532dup
TMEM71 transcript variant 10	NM_001382401.1:c.25+157=	NM_001382401.1:c.25+148_25+157del	NM_001382401.1:c.25+149_25+157del	NM_001382401.1:c.25+150_25+157del	NM_001382401.1:c.25+151_25+157del	NM_001382401.1:c.25+152_25+157del	NM_001382401.1:c.25+153_25+157del	NM_001382401.1:c.25+154_25+157del	NM_001382401.1:c.25+155_25+157del	NM_001382401.1:c.25+156_25+157del	NM_001382401.1:c.25+157del	NM_001382401.1:c.25+157dup	NM_001382401.1:c.25+156_25+157dup	NM_001382401.1:c.25+155_25+157dup	NM_001382401.1:c.25+154_25+157dup
TMEM71 transcript variant 11	NM_001382402.1:c.41-532=	NM_001382402.1:c.41-541_41-532del	NM_001382402.1:c.41-540_41-532del	NM_001382402.1:c.41-539_41-532del	NM_001382402.1:c.41-538_41-532del	NM_001382402.1:c.41-537_41-532del	NM_001382402.1:c.41-536_41-532del	NM_001382402.1:c.41-535_41-532del	NM_001382402.1:c.41-534_41-532del	NM_001382402.1:c.41-533_41-532del	NM_001382402.1:c.41-532del	NM_001382402.1:c.41-532dup	NM_001382402.1:c.41-533_41-532dup	NM_001382402.1:c.41-534_41-532dup	NM_001382402.1:c.41-535_41-532dup
TMEM71 transcript variant 9	NM_001382403.1:c.41-532=	NM_001382403.1:c.41-541_41-532del	NM_001382403.1:c.41-540_41-532del	NM_001382403.1:c.41-539_41-532del	NM_001382403.1:c.41-538_41-532del	NM_001382403.1:c.41-537_41-532del	NM_001382403.1:c.41-536_41-532del	NM_001382403.1:c.41-535_41-532del	NM_001382403.1:c.41-534_41-532del	NM_001382403.1:c.41-533_41-532del	NM_001382403.1:c.41-532del	NM_001382403.1:c.41-532dup	NM_001382403.1:c.41-533_41-532dup	NM_001382403.1:c.41-534_41-532dup	NM_001382403.1:c.41-535_41-532dup
TMEM71 transcript variant 12	NM_001382404.1:c.41-532=	NM_001382404.1:c.41-541_41-532del	NM_001382404.1:c.41-540_41-532del	NM_001382404.1:c.41-539_41-532del	NM_001382404.1:c.41-538_41-532del	NM_001382404.1:c.41-537_41-532del	NM_001382404.1:c.41-536_41-532del	NM_001382404.1:c.41-535_41-532del	NM_001382404.1:c.41-534_41-532del	NM_001382404.1:c.41-533_41-532del	NM_001382404.1:c.41-532del	NM_001382404.1:c.41-532dup	NM_001382404.1:c.41-533_41-532dup	NM_001382404.1:c.41-534_41-532dup	NM_001382404.1:c.41-535_41-532dup
TMEM71 transcript variant 13	NM_001382405.1:c.41-532=	NM_001382405.1:c.41-541_41-532del	NM_001382405.1:c.41-540_41-532del	NM_001382405.1:c.41-539_41-532del	NM_001382405.1:c.41-538_41-532del	NM_001382405.1:c.41-537_41-532del	NM_001382405.1:c.41-536_41-532del	NM_001382405.1:c.41-535_41-532del	NM_001382405.1:c.41-534_41-532del	NM_001382405.1:c.41-533_41-532del	NM_001382405.1:c.41-532del	NM_001382405.1:c.41-532dup	NM_001382405.1:c.41-533_41-532dup	NM_001382405.1:c.41-534_41-532dup	NM_001382405.1:c.41-535_41-532dup
TMEM71 transcript variant 1	NM_144649.2:c.41-532=	NM_144649.2:c.41-541_41-532del	NM_144649.2:c.41-540_41-532del	NM_144649.2:c.41-539_41-532del	NM_144649.2:c.41-538_41-532del	NM_144649.2:c.41-537_41-532del	NM_144649.2:c.41-536_41-532del	NM_144649.2:c.41-535_41-532del	NM_144649.2:c.41-534_41-532del	NM_144649.2:c.41-533_41-532del	NM_144649.2:c.41-532del	NM_144649.2:c.41-532dup	NM_144649.2:c.41-533_41-532dup	NM_144649.2:c.41-534_41-532dup	NM_144649.2:c.41-535_41-532dup
TMEM71 transcript variant 1	NM_144649.3:c.41-532=	NM_144649.3:c.41-541_41-532del	NM_144649.3:c.41-540_41-532del	NM_144649.3:c.41-539_41-532del	NM_144649.3:c.41-538_41-532del	NM_144649.3:c.41-537_41-532del	NM_144649.3:c.41-536_41-532del	NM_144649.3:c.41-535_41-532del	NM_144649.3:c.41-534_41-532del	NM_144649.3:c.41-533_41-532del	NM_144649.3:c.41-532del	NM_144649.3:c.41-532dup	NM_144649.3:c.41-533_41-532dup	NM_144649.3:c.41-534_41-532dup	NM_144649.3:c.41-535_41-532dup
TMEM71 transcript variant X1	XM_005250794.1:c.41-532=	XM_005250794.1:c.41-541_41-532del	XM_005250794.1:c.41-540_41-532del	XM_005250794.1:c.41-539_41-532del	XM_005250794.1:c.41-538_41-532del	XM_005250794.1:c.41-537_41-532del	XM_005250794.1:c.41-536_41-532del	XM_005250794.1:c.41-535_41-532del	XM_005250794.1:c.41-534_41-532del	XM_005250794.1:c.41-533_41-532del	XM_005250794.1:c.41-532del	XM_005250794.1:c.41-532dup	XM_005250794.1:c.41-533_41-532dup	XM_005250794.1:c.41-534_41-532dup	XM_005250794.1:c.41-535_41-532dup
TMEM71 transcript variant X2	XM_005250795.1:c.41-532=	XM_005250795.1:c.41-541_41-532del	XM_005250795.1:c.41-540_41-532del	XM_005250795.1:c.41-539_41-532del	XM_005250795.1:c.41-538_41-532del	XM_005250795.1:c.41-537_41-532del	XM_005250795.1:c.41-536_41-532del	XM_005250795.1:c.41-535_41-532del	XM_005250795.1:c.41-534_41-532del	XM_005250795.1:c.41-533_41-532del	XM_005250795.1:c.41-532del	XM_005250795.1:c.41-532dup	XM_005250795.1:c.41-533_41-532dup	XM_005250795.1:c.41-534_41-532dup	XM_005250795.1:c.41-535_41-532dup
TMEM71 transcript variant X1	XM_047421363.1:c.41-532=	XM_047421363.1:c.41-541_41-532del	XM_047421363.1:c.41-540_41-532del	XM_047421363.1:c.41-539_41-532del	XM_047421363.1:c.41-538_41-532del	XM_047421363.1:c.41-537_41-532del	XM_047421363.1:c.41-536_41-532del	XM_047421363.1:c.41-535_41-532del	XM_047421363.1:c.41-534_41-532del	XM_047421363.1:c.41-533_41-532del	XM_047421363.1:c.41-532del	XM_047421363.1:c.41-532dup	XM_047421363.1:c.41-533_41-532dup	XM_047421363.1:c.41-534_41-532dup	XM_047421363.1:c.41-535_41-532dup

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#.

61 SubSNP, 32 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss81605512	Dec 14, 2007 (129)
2	HGSV	ss81868700	Dec 14, 2007 (129)
3	HGSV	ss81877355	Dec 14, 2007 (129)
4	HUMANGENOME_JCVI	ss95506016	Feb 04, 2009 (138)
5	PJP	ss295402359	May 31, 2013 (138)
6	BILGI_BIOE	ss666454994	Apr 25, 2013 (138)
7	1000GENOMES	ss1368106391	Aug 21, 2014 (142)
8	EVA_UK10K_ALSPAC	ss1706261319	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1706261445	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1710405605	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1710405606	Apr 01, 2015 (144)
12	EVA_UK10K_ALSPAC	ss1710405679	Apr 01, 2015 (144)
13	EVA_UK10K_ALSPAC	ss1710405680	Apr 01, 2015 (144)
14	SYSTEMSBIOZJU	ss2627169946	Nov 08, 2017 (151)
15	SWEGEN	ss3004061975	Nov 08, 2017 (151)
16	MCHAISSO	ss3065209141	Nov 08, 2017 (151)
17	URBANLAB	ss3649024689	Oct 12, 2018 (152)
18	EVA_DECODE	ss3723083694	Jul 13, 2019 (153)
19	EVA_DECODE	ss3723083695	Jul 13, 2019 (153)
20	EVA_DECODE	ss3723083696	Jul 13, 2019 (153)
21	EVA_DECODE	ss3723083697	Jul 13, 2019 (153)
22	EVA_DECODE	ss3723083698	Jul 13, 2019 (153)
23	PACBIO	ss3791522898	Jul 13, 2019 (153)
24	PACBIO	ss3796404482	Jul 13, 2019 (153)
25	KHV_HUMAN_GENOMES	ss3811823450	Jul 13, 2019 (153)
26	EVA	ss3831434519	Apr 26, 2020 (154)
27	GNOMAD	ss4194124065	Apr 26, 2021 (155)
28	GNOMAD	ss4194124066	Apr 26, 2021 (155)
29	GNOMAD	ss4194124067	Apr 26, 2021 (155)
30	GNOMAD	ss4194124068	Apr 26, 2021 (155)
31	GNOMAD	ss4194124069	Apr 26, 2021 (155)
32	GNOMAD	ss4194124070	Apr 26, 2021 (155)
33	GNOMAD	ss4194124071	Apr 26, 2021 (155)
34	GNOMAD	ss4194124072	Apr 26, 2021 (155)
35	GNOMAD	ss4194124073	Apr 26, 2021 (155)
36	GNOMAD	ss4194124074	Apr 26, 2021 (155)
37	GNOMAD	ss4194124075	Apr 26, 2021 (155)
38	GNOMAD	ss4194124076	Apr 26, 2021 (155)
39	GNOMAD	ss4194124077	Apr 26, 2021 (155)
40	GNOMAD	ss4194124078	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5191173663	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5191173664	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5191173665	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5191173666	Apr 26, 2021 (155)
45	TOMMO_GENOMICS	ss5191173667	Apr 26, 2021 (155)
46	TOMMO_GENOMICS	ss5191173668	Apr 26, 2021 (155)
47	1000G_HIGH_COVERAGE	ss5279080617	Oct 16, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5279080618	Oct 16, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5279080619	Oct 16, 2022 (156)
50	1000G_HIGH_COVERAGE	ss5279080621	Oct 16, 2022 (156)
51	1000G_HIGH_COVERAGE	ss5279080622	Oct 16, 2022 (156)
52	HUGCELL_USP	ss5475447746	Oct 16, 2022 (156)
53	HUGCELL_USP	ss5475447747	Oct 16, 2022 (156)
54	HUGCELL_USP	ss5475447748	Oct 16, 2022 (156)
55	HUGCELL_USP	ss5475447749	Oct 16, 2022 (156)
56	HUGCELL_USP	ss5475447750	Oct 16, 2022 (156)
57	TOMMO_GENOMICS	ss5733947058	Oct 16, 2022 (156)
58	TOMMO_GENOMICS	ss5733947059	Oct 16, 2022 (156)
59	TOMMO_GENOMICS	ss5733947060	Oct 16, 2022 (156)
60	TOMMO_GENOMICS	ss5733947061	Oct 16, 2022 (156)
61	TOMMO_GENOMICS	ss5733947062	Oct 16, 2022 (156)
62	1000Genomes	NC_000008.10 - 133770072	Oct 12, 2018 (152)
63	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 24641963 (NC_000008.10:133770071:AAAA: 509/3854) Row 24641964 (NC_000008.10:133770072:AA: 1907/3854)	-	Oct 12, 2018 (152)
64	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 24641963 (NC_000008.10:133770071:AAAA: 509/3854) Row 24641964 (NC_000008.10:133770072:AA: 1907/3854)	-	Oct 12, 2018 (152)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 312294358 (NC_000008.11:132757825::A 1158/97594) Row 312294359 (NC_000008.11:132757825::AA 12/97748) Row 312294360 (NC_000008.11:132757825::AAA 14/97766)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 312294358 (NC_000008.11:132757825::A 1158/97594) Row 312294359 (NC_000008.11:132757825::AA 12/97748) Row 312294360 (NC_000008.11:132757825::AAA 14/97766)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 312294358 (NC_000008.11:132757825::A 1158/97594) Row 312294359 (NC_000008.11:132757825::AA 12/97748) Row 312294360 (NC_000008.11:132757825::AAA 14/97766)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 312294358 (NC_000008.11:132757825::A 1158/97594) Row 312294359 (NC_000008.11:132757825::AA 12/97748) Row 312294360 (NC_000008.11:132757825::AAA 14/97766)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 312294358 (NC_000008.11:132757825::A 1158/97594) Row 312294359 (NC_000008.11:132757825::AA 12/97748) Row 312294360 (NC_000008.11:132757825::AAA 14/97766)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 312294358 (NC_000008.11:132757825::A 1158/97594) Row 312294359 (NC_000008.11:132757825::AA 12/97748) Row 312294360 (NC_000008.11:132757825::AAA 14/97766)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 312294358 (NC_000008.11:132757825::A 1158/97594) Row 312294359 (NC_000008.11:132757825::AA 12/97748) Row 312294360 (NC_000008.11:132757825::AAA 14/97766)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 312294358 (NC_000008.11:132757825::A 1158/97594) Row 312294359 (NC_000008.11:132757825::AA 12/97748) Row 312294360 (NC_000008.11:132757825::AAA 14/97766)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 312294358 (NC_000008.11:132757825::A 1158/97594) Row 312294359 (NC_000008.11:132757825::AA 12/97748) Row 312294360 (NC_000008.11:132757825::AAA 14/97766)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 312294358 (NC_000008.11:132757825::A 1158/97594) Row 312294359 (NC_000008.11:132757825::AA 12/97748) Row 312294360 (NC_000008.11:132757825::AAA 14/97766)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 312294358 (NC_000008.11:132757825::A 1158/97594) Row 312294359 (NC_000008.11:132757825::AA 12/97748) Row 312294360 (NC_000008.11:132757825::AAA 14/97766)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 312294358 (NC_000008.11:132757825::A 1158/97594) Row 312294359 (NC_000008.11:132757825::AA 12/97748) Row 312294360 (NC_000008.11:132757825::AAA 14/97766)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 312294358 (NC_000008.11:132757825::A 1158/97594) Row 312294359 (NC_000008.11:132757825::AA 12/97748) Row 312294360 (NC_000008.11:132757825::AAA 14/97766)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 312294358 (NC_000008.11:132757825::A 1158/97594) Row 312294359 (NC_000008.11:132757825::AA 12/97748) Row 312294360 (NC_000008.11:132757825::AAA 14/97766)...	-	Apr 26, 2021 (155)
79	8.3KJPN Submission ignored due to conflicting rows: Row 49142970 (NC_000008.10:133770071:AAA: 4640/16738) Row 49142971 (NC_000008.10:133770071:AAAA: 2342/16738) Row 49142972 (NC_000008.10:133770071:A: 3373/16738)...	-	Apr 26, 2021 (155)
80	8.3KJPN Submission ignored due to conflicting rows: Row 49142970 (NC_000008.10:133770071:AAA: 4640/16738) Row 49142971 (NC_000008.10:133770071:AAAA: 2342/16738) Row 49142972 (NC_000008.10:133770071:A: 3373/16738)...	-	Apr 26, 2021 (155)
81	8.3KJPN Submission ignored due to conflicting rows: Row 49142970 (NC_000008.10:133770071:AAA: 4640/16738) Row 49142971 (NC_000008.10:133770071:AAAA: 2342/16738) Row 49142972 (NC_000008.10:133770071:A: 3373/16738)...	-	Apr 26, 2021 (155)
82	8.3KJPN Submission ignored due to conflicting rows: Row 49142970 (NC_000008.10:133770071:AAA: 4640/16738) Row 49142971 (NC_000008.10:133770071:AAAA: 2342/16738) Row 49142972 (NC_000008.10:133770071:A: 3373/16738)...	-	Apr 26, 2021 (155)
83	8.3KJPN Submission ignored due to conflicting rows: Row 49142970 (NC_000008.10:133770071:AAA: 4640/16738) Row 49142971 (NC_000008.10:133770071:AAAA: 2342/16738) Row 49142972 (NC_000008.10:133770071:A: 3373/16738)...	-	Apr 26, 2021 (155)
84	8.3KJPN Submission ignored due to conflicting rows: Row 49142970 (NC_000008.10:133770071:AAA: 4640/16738) Row 49142971 (NC_000008.10:133770071:AAAA: 2342/16738) Row 49142972 (NC_000008.10:133770071:A: 3373/16738)...	-	Apr 26, 2021 (155)
85	14KJPN Submission ignored due to conflicting rows: Row 67784162 (NC_000008.11:132757825:AAA: 7917/28250) Row 67784163 (NC_000008.11:132757825:AAAA: 4075/28250) Row 67784164 (NC_000008.11:132757825:A: 5836/28250)...	-	Oct 16, 2022 (156)
86	14KJPN Submission ignored due to conflicting rows: Row 67784162 (NC_000008.11:132757825:AAA: 7917/28250) Row 67784163 (NC_000008.11:132757825:AAAA: 4075/28250) Row 67784164 (NC_000008.11:132757825:A: 5836/28250)...	-	Oct 16, 2022 (156)
87	14KJPN Submission ignored due to conflicting rows: Row 67784162 (NC_000008.11:132757825:AAA: 7917/28250) Row 67784163 (NC_000008.11:132757825:AAAA: 4075/28250) Row 67784164 (NC_000008.11:132757825:A: 5836/28250)...	-	Oct 16, 2022 (156)
88	14KJPN Submission ignored due to conflicting rows: Row 67784162 (NC_000008.11:132757825:AAA: 7917/28250) Row 67784163 (NC_000008.11:132757825:AAAA: 4075/28250) Row 67784164 (NC_000008.11:132757825:A: 5836/28250)...	-	Oct 16, 2022 (156)
89	14KJPN Submission ignored due to conflicting rows: Row 67784162 (NC_000008.11:132757825:AAA: 7917/28250) Row 67784163 (NC_000008.11:132757825:AAAA: 4075/28250) Row 67784164 (NC_000008.11:132757825:A: 5836/28250)...	-	Oct 16, 2022 (156)
90	UK 10K study - Twins Submission ignored due to conflicting rows: Row 24641963 (NC_000008.10:133770071:AAAA: 487/3708) Row 24641964 (NC_000008.10:133770072:AA: 1776/3708)	-	Oct 12, 2018 (152)
91	UK 10K study - Twins Submission ignored due to conflicting rows: Row 24641963 (NC_000008.10:133770071:AAAA: 487/3708) Row 24641964 (NC_000008.10:133770072:AA: 1776/3708)	-	Oct 12, 2018 (152)
92	UK 10K study - Twins Submission ignored due to conflicting rows: Row 24641963 (NC_000008.10:133770071:AAAA: 487/3708) Row 24641964 (NC_000008.10:133770072:AAA: 1776/3708) Row 24641965 (NC_000008.10:133770073:AA: 1106/3708)	-	Apr 26, 2020 (154)
93	ALFA	NC_000008.11 - 132757826	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)
rs66934361	Apr 25, 2013 (138)
rs66934362	Feb 26, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4194124078	NC_000008.11:132757825:AAAAAAAAAA:	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
3488801415	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4194124077	NC_000008.11:132757825:AAAAAAAAA:	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
3488801415	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4194124076	NC_000008.11:132757825:AAAAAAAA:	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
3488801415	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4194124075	NC_000008.11:132757825:AAAAAAA:	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
3488801415	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4194124074	NC_000008.11:132757825:AAAAAA:	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss5191173667	NC_000008.10:133770071:AAAAA:	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4194124073	NC_000008.11:132757825:AAAAA:	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
3488801415	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss1706261319, ss1706261445, ss3004061975, ss5191173664	NC_000008.10:133770071:AAAA:	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3723083698, ss4194124072, ss5279080621, ss5475447749, ss5733947059	NC_000008.11:132757825:AAAA:	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
3488801415	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss295402359	NC_000008.9:133839253:AAA:	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss81605512, ss81868700, ss81877355	NC_000008.9:133839272:AAA:	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
44277287, ss1368106391, ss2627169946, ss3831434519, ss5191173663	NC_000008.10:133770071:AAA:	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss1710405605, ss1710405679	NC_000008.10:133770072:AAA:	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3065209141, ss3649024689, ss3811823450, ss4194124071, ss5279080617, ss5475447746, ss5733947058	NC_000008.11:132757825:AAA:	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
3488801415	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3723083697	NC_000008.11:132757826:AAA:	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss95506016	NT_008046.16:47043639:AAA:	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5191173668	NC_000008.10:133770071:AA:	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
	NC_000008.10:133770072:AA:	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss1710405606, ss1710405680	NC_000008.10:133770073:AA:	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4194124070, ss5279080619, ss5475447750, ss5733947062	NC_000008.11:132757825:AA:	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
3488801415	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3723083696	NC_000008.11:132757827:AA:	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss666454994, ss3791522898, ss3796404482, ss5191173665	NC_000008.10:133770071:A:	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4194124069, ss5279080618, ss5475447747, ss5733947060	NC_000008.11:132757825:A:	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
3488801415	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3723083695	NC_000008.11:132757828:A:	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5191173666	NC_000008.10:133770071::A	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4194124065, ss5279080622, ss5475447748, ss5733947061	NC_000008.11:132757825::A	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
3488801415	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3723083694	NC_000008.11:132757829::A	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4194124066	NC_000008.11:132757825::AA	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
3488801415	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4194124067	NC_000008.11:132757825::AAA	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3488801415	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4194124068	NC_000008.11:132757825::AAAA	NC_000008.11:132757825:AAAAAAAAAAA… NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

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

No publications for rs56859505

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

rs56859505