Name: rs34790478
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.

rs34790478

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:31093261-31093286 (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)₁₃ / del(A)₁₂ / del(A)₉ / de…
del(A)₁₃ / del(A)₁₂ / del(A)₉ / 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)₉ / dup(A)₂₃ / insAAAT(A)₃₁
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₃=0.0000 (0/1258, ALFA)
del(A)₁₂=0.0000 (0/1258, ALFA)
del(A)₉=0.0000 (0/1258, ALFA) (+ 13 more)
del(A)₇=0.0000 (0/1258, ALFA)
del(A)₆=0.0000 (0/1258, ALFA)
del(A)₅=0.0000 (0/1258, ALFA)
del(A)₄=0.0000 (0/1258, ALFA)
delAAA=0.0000 (0/1258, ALFA)
delAA=0.0000 (0/1258, ALFA)
delA=0.0000 (0/1258, ALFA)
dupA=0.0000 (0/1258, ALFA)
dupAA=0.0000 (0/1258, ALFA)
dupAAA=0.0000 (0/1258, ALFA)
dup(A)₄=0.0000 (0/1258, ALFA)
dup(A)₅=0.0000 (0/1258, ALFA)
dup(A)₆=0.0000 (0/1258, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TRPM1 : 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	1258	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
European	Sub	962	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African	Sub	212	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	8	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African American	Sub	204	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	10	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	30	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	6	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	38	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	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	1258	(A)₂₆=1.0000	del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₉=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000, dup(A)₆=0.0000
Allele Frequency Aggregator	European	Sub	962	(A)₂₆=1.000	del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₉=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, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	African	Sub	212	(A)₂₆=1.000	del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₉=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, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	Other	Sub	38	(A)₂₆=1.00	del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₉=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, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00
Allele Frequency Aggregator	Latin American 2	Sub	30	(A)₂₆=1.00	del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₉=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, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00
Allele Frequency Aggregator	Latin American 1	Sub	10	(A)₂₆=1.0	del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₉=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, dupAAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0, dup(A)₆=0.0
Allele Frequency Aggregator	South Asian	Sub	6	(A)₂₆=1.0	del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₉=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, dupAAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0, dup(A)₆=0.0
Allele Frequency Aggregator	Asian	Sub	0	(A)₂₆=0	del(A)₁₃=0, del(A)₁₂=0, del(A)₉=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, dupAAA=0, dup(A)₄=0, dup(A)₅=0, dup(A)₆=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 15	NC_000015.10:g.31093274_31093286del
GRCh38.p14 chr 15	NC_000015.10:g.31093275_31093286del
GRCh38.p14 chr 15	NC_000015.10:g.31093278_31093286del
GRCh38.p14 chr 15	NC_000015.10:g.31093280_31093286del
GRCh38.p14 chr 15	NC_000015.10:g.31093281_31093286del
GRCh38.p14 chr 15	NC_000015.10:g.31093282_31093286del
GRCh38.p14 chr 15	NC_000015.10:g.31093283_31093286del
GRCh38.p14 chr 15	NC_000015.10:g.31093284_31093286del
GRCh38.p14 chr 15	NC_000015.10:g.31093285_31093286del
GRCh38.p14 chr 15	NC_000015.10:g.31093286del
GRCh38.p14 chr 15	NC_000015.10:g.31093286dup
GRCh38.p14 chr 15	NC_000015.10:g.31093285_31093286dup
GRCh38.p14 chr 15	NC_000015.10:g.31093284_31093286dup
GRCh38.p14 chr 15	NC_000015.10:g.31093283_31093286dup
GRCh38.p14 chr 15	NC_000015.10:g.31093282_31093286dup
GRCh38.p14 chr 15	NC_000015.10:g.31093281_31093286dup
GRCh38.p14 chr 15	NC_000015.10:g.31093278_31093286dup
GRCh38.p14 chr 15	NC_000015.10:g.31093264_31093286dup
GRCh38.p14 chr 15	NC_000015.10:g.31093261_31093286A[29]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 15	NC_000015.9:g.31385477_31385489del
GRCh37.p13 chr 15	NC_000015.9:g.31385478_31385489del
GRCh37.p13 chr 15	NC_000015.9:g.31385481_31385489del
GRCh37.p13 chr 15	NC_000015.9:g.31385483_31385489del
GRCh37.p13 chr 15	NC_000015.9:g.31385484_31385489del
GRCh37.p13 chr 15	NC_000015.9:g.31385485_31385489del
GRCh37.p13 chr 15	NC_000015.9:g.31385486_31385489del
GRCh37.p13 chr 15	NC_000015.9:g.31385487_31385489del
GRCh37.p13 chr 15	NC_000015.9:g.31385488_31385489del
GRCh37.p13 chr 15	NC_000015.9:g.31385489del
GRCh37.p13 chr 15	NC_000015.9:g.31385489dup
GRCh37.p13 chr 15	NC_000015.9:g.31385488_31385489dup
GRCh37.p13 chr 15	NC_000015.9:g.31385487_31385489dup
GRCh37.p13 chr 15	NC_000015.9:g.31385486_31385489dup
GRCh37.p13 chr 15	NC_000015.9:g.31385485_31385489dup
GRCh37.p13 chr 15	NC_000015.9:g.31385484_31385489dup
GRCh37.p13 chr 15	NC_000015.9:g.31385481_31385489dup
GRCh37.p13 chr 15	NC_000015.9:g.31385467_31385489dup
GRCh37.p13 chr 15	NC_000015.9:g.31385464_31385489A[29]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
TRPM1 RefSeqGene	NG_016453.2:g.73001_73013del
TRPM1 RefSeqGene	NG_016453.2:g.73002_73013del
TRPM1 RefSeqGene	NG_016453.2:g.73005_73013del
TRPM1 RefSeqGene	NG_016453.2:g.73007_73013del
TRPM1 RefSeqGene	NG_016453.2:g.73008_73013del
TRPM1 RefSeqGene	NG_016453.2:g.73009_73013del
TRPM1 RefSeqGene	NG_016453.2:g.73010_73013del
TRPM1 RefSeqGene	NG_016453.2:g.73011_73013del
TRPM1 RefSeqGene	NG_016453.2:g.73012_73013del
TRPM1 RefSeqGene	NG_016453.2:g.73013del
TRPM1 RefSeqGene	NG_016453.2:g.73013dup
TRPM1 RefSeqGene	NG_016453.2:g.73012_73013dup
TRPM1 RefSeqGene	NG_016453.2:g.73011_73013dup
TRPM1 RefSeqGene	NG_016453.2:g.73010_73013dup
TRPM1 RefSeqGene	NG_016453.2:g.73009_73013dup
TRPM1 RefSeqGene	NG_016453.2:g.73008_73013dup
TRPM1 RefSeqGene	NG_016453.2:g.73005_73013dup
TRPM1 RefSeqGene	NG_016453.2:g.72991_73013dup
TRPM1 RefSeqGene	NG_016453.2:g.72988_73013T[31]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.3266580dup
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.3266569_3266580del
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.3266570_3266580del
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.3266573_3266580del
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.3266575_3266580del
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.3266576_3266580del
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.3266577_3266580del
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.3266578_3266580del
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.3266579_3266580del
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.3266580del
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.3266579_3266580dup
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.3266578_3266580dup
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.3266577_3266580dup
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.3266576_3266580dup
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.3266575_3266580dup
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.3266574_3266580dup
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.3266571_3266580dup
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.3266557_3266580dup
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.3266556_3266580A[29]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.3379032dup
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.3379021_3379032del
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.3379022_3379032del
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.3379025_3379032del
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.3379027_3379032del
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.3379028_3379032del
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.3379029_3379032del
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.3379030_3379032del
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.3379031_3379032del
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.3379032del
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.3379031_3379032dup
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.3379030_3379032dup
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.3379029_3379032dup
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.3379028_3379032dup
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.3379027_3379032dup
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.3379026_3379032dup
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.3379023_3379032dup
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.3379009_3379032dup
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.3379008_3379032A[29]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Gene: TRPM1, transient receptor potential cation channel subfamily M member 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TRPM1 transcript variant 1	NM_001252020.2:c.55-16289… NM_001252020.2:c.55-16289_55-16277del	N/A	Intron Variant
TRPM1 transcript variant 3	NM_001252024.2:c.-84+8384… NM_001252024.2:c.-84+8384_-84+8396del	N/A	Intron Variant
TRPM1 transcript variant 4	NM_001252030.2:c.-64+8384… NM_001252030.2:c.-64+8384_-64+8396del	N/A	Intron Variant
TRPM1 transcript variant 2	NM_002420.6:c.-64+8384_-6… NM_002420.6:c.-64+8384_-64+8396del	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)₂₆=	del(A)₁₃	del(A)₁₂	del(A)₉	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)₉	dup(A)₂₃	insAAAT(A)₃₁
GRCh38.p14 chr 15	NC_000015.10:g.31093261_31093286=	NC_000015.10:g.31093274_31093286del	NC_000015.10:g.31093275_31093286del	NC_000015.10:g.31093278_31093286del	NC_000015.10:g.31093280_31093286del	NC_000015.10:g.31093281_31093286del	NC_000015.10:g.31093282_31093286del	NC_000015.10:g.31093283_31093286del	NC_000015.10:g.31093284_31093286del	NC_000015.10:g.31093285_31093286del	NC_000015.10:g.31093286del	NC_000015.10:g.31093286dup	NC_000015.10:g.31093285_31093286dup	NC_000015.10:g.31093284_31093286dup	NC_000015.10:g.31093283_31093286dup	NC_000015.10:g.31093282_31093286dup	NC_000015.10:g.31093281_31093286dup	NC_000015.10:g.31093278_31093286dup	NC_000015.10:g.31093264_31093286dup	NC_000015.10:g.31093261_31093286A[29]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 15	NC_000015.9:g.31385464_31385489=	NC_000015.9:g.31385477_31385489del	NC_000015.9:g.31385478_31385489del	NC_000015.9:g.31385481_31385489del	NC_000015.9:g.31385483_31385489del	NC_000015.9:g.31385484_31385489del	NC_000015.9:g.31385485_31385489del	NC_000015.9:g.31385486_31385489del	NC_000015.9:g.31385487_31385489del	NC_000015.9:g.31385488_31385489del	NC_000015.9:g.31385489del	NC_000015.9:g.31385489dup	NC_000015.9:g.31385488_31385489dup	NC_000015.9:g.31385487_31385489dup	NC_000015.9:g.31385486_31385489dup	NC_000015.9:g.31385485_31385489dup	NC_000015.9:g.31385484_31385489dup	NC_000015.9:g.31385481_31385489dup	NC_000015.9:g.31385467_31385489dup	NC_000015.9:g.31385464_31385489A[29]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
TRPM1 RefSeqGene	NG_016453.2:g.72988_73013=	NG_016453.2:g.73001_73013del	NG_016453.2:g.73002_73013del	NG_016453.2:g.73005_73013del	NG_016453.2:g.73007_73013del	NG_016453.2:g.73008_73013del	NG_016453.2:g.73009_73013del	NG_016453.2:g.73010_73013del	NG_016453.2:g.73011_73013del	NG_016453.2:g.73012_73013del	NG_016453.2:g.73013del	NG_016453.2:g.73013dup	NG_016453.2:g.73012_73013dup	NG_016453.2:g.73011_73013dup	NG_016453.2:g.73010_73013dup	NG_016453.2:g.73009_73013dup	NG_016453.2:g.73008_73013dup	NG_016453.2:g.73005_73013dup	NG_016453.2:g.72991_73013dup	NG_016453.2:g.72988_73013T[31]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.3266580dup	NW_011332701.1:g.3266569_3266580del	NW_011332701.1:g.3266570_3266580del	NW_011332701.1:g.3266573_3266580del	NW_011332701.1:g.3266575_3266580del	NW_011332701.1:g.3266576_3266580del	NW_011332701.1:g.3266577_3266580del	NW_011332701.1:g.3266578_3266580del	NW_011332701.1:g.3266579_3266580del	NW_011332701.1:g.3266580del	NW_011332701.1:g.3266556_3266580=	NW_011332701.1:g.3266579_3266580dup	NW_011332701.1:g.3266578_3266580dup	NW_011332701.1:g.3266577_3266580dup	NW_011332701.1:g.3266576_3266580dup	NW_011332701.1:g.3266575_3266580dup	NW_011332701.1:g.3266574_3266580dup	NW_011332701.1:g.3266571_3266580dup	NW_011332701.1:g.3266557_3266580dup	NW_011332701.1:g.3266556_3266580A[29]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.3379032dup	NT_187660.1:g.3379021_3379032del	NT_187660.1:g.3379022_3379032del	NT_187660.1:g.3379025_3379032del	NT_187660.1:g.3379027_3379032del	NT_187660.1:g.3379028_3379032del	NT_187660.1:g.3379029_3379032del	NT_187660.1:g.3379030_3379032del	NT_187660.1:g.3379031_3379032del	NT_187660.1:g.3379032del	NT_187660.1:g.3379008_3379032=	NT_187660.1:g.3379031_3379032dup	NT_187660.1:g.3379030_3379032dup	NT_187660.1:g.3379029_3379032dup	NT_187660.1:g.3379028_3379032dup	NT_187660.1:g.3379027_3379032dup	NT_187660.1:g.3379026_3379032dup	NT_187660.1:g.3379023_3379032dup	NT_187660.1:g.3379009_3379032dup	NT_187660.1:g.3379008_3379032A[29]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
TRPM1 transcript variant 1	NM_001252020.1:c.55-16277=	NM_001252020.1:c.55-16289_55-16277del	NM_001252020.1:c.55-16288_55-16277del	NM_001252020.1:c.55-16285_55-16277del	NM_001252020.1:c.55-16283_55-16277del	NM_001252020.1:c.55-16282_55-16277del	NM_001252020.1:c.55-16281_55-16277del	NM_001252020.1:c.55-16280_55-16277del	NM_001252020.1:c.55-16279_55-16277del	NM_001252020.1:c.55-16278_55-16277del	NM_001252020.1:c.55-16277del	NM_001252020.1:c.55-16277dup	NM_001252020.1:c.55-16278_55-16277dup	NM_001252020.1:c.55-16279_55-16277dup	NM_001252020.1:c.55-16280_55-16277dup	NM_001252020.1:c.55-16281_55-16277dup	NM_001252020.1:c.55-16282_55-16277dup	NM_001252020.1:c.55-16285_55-16277dup	NM_001252020.1:c.55-16299_55-16277dup	NM_001252020.1:c.55-16277_55-16276insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTT
TRPM1 transcript variant 1	NM_001252020.2:c.55-16277=	NM_001252020.2:c.55-16289_55-16277del	NM_001252020.2:c.55-16288_55-16277del	NM_001252020.2:c.55-16285_55-16277del	NM_001252020.2:c.55-16283_55-16277del	NM_001252020.2:c.55-16282_55-16277del	NM_001252020.2:c.55-16281_55-16277del	NM_001252020.2:c.55-16280_55-16277del	NM_001252020.2:c.55-16279_55-16277del	NM_001252020.2:c.55-16278_55-16277del	NM_001252020.2:c.55-16277del	NM_001252020.2:c.55-16277dup	NM_001252020.2:c.55-16278_55-16277dup	NM_001252020.2:c.55-16279_55-16277dup	NM_001252020.2:c.55-16280_55-16277dup	NM_001252020.2:c.55-16281_55-16277dup	NM_001252020.2:c.55-16282_55-16277dup	NM_001252020.2:c.55-16285_55-16277dup	NM_001252020.2:c.55-16299_55-16277dup	NM_001252020.2:c.55-16277_55-16276insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTT
TRPM1 transcript variant 3	NM_001252024.1:c.-84+8396=	NM_001252024.1:c.-84+8384_-84+8396del	NM_001252024.1:c.-84+8385_-84+8396del	NM_001252024.1:c.-84+8388_-84+8396del	NM_001252024.1:c.-84+8390_-84+8396del	NM_001252024.1:c.-84+8391_-84+8396del	NM_001252024.1:c.-84+8392_-84+8396del	NM_001252024.1:c.-84+8393_-84+8396del	NM_001252024.1:c.-84+8394_-84+8396del	NM_001252024.1:c.-84+8395_-84+8396del	NM_001252024.1:c.-84+8396del	NM_001252024.1:c.-84+8396dup	NM_001252024.1:c.-84+8395_-84+8396dup	NM_001252024.1:c.-84+8394_-84+8396dup	NM_001252024.1:c.-84+8393_-84+8396dup	NM_001252024.1:c.-84+8392_-84+8396dup	NM_001252024.1:c.-84+8391_-84+8396dup	NM_001252024.1:c.-84+8388_-84+8396dup	NM_001252024.1:c.-84+8374_-84+8396dup	NM_001252024.1:c.-84+8396_-84+8397insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTT
TRPM1 transcript variant 3	NM_001252024.2:c.-84+8396=	NM_001252024.2:c.-84+8384_-84+8396del	NM_001252024.2:c.-84+8385_-84+8396del	NM_001252024.2:c.-84+8388_-84+8396del	NM_001252024.2:c.-84+8390_-84+8396del	NM_001252024.2:c.-84+8391_-84+8396del	NM_001252024.2:c.-84+8392_-84+8396del	NM_001252024.2:c.-84+8393_-84+8396del	NM_001252024.2:c.-84+8394_-84+8396del	NM_001252024.2:c.-84+8395_-84+8396del	NM_001252024.2:c.-84+8396del	NM_001252024.2:c.-84+8396dup	NM_001252024.2:c.-84+8395_-84+8396dup	NM_001252024.2:c.-84+8394_-84+8396dup	NM_001252024.2:c.-84+8393_-84+8396dup	NM_001252024.2:c.-84+8392_-84+8396dup	NM_001252024.2:c.-84+8391_-84+8396dup	NM_001252024.2:c.-84+8388_-84+8396dup	NM_001252024.2:c.-84+8374_-84+8396dup	NM_001252024.2:c.-84+8396_-84+8397insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTT
TRPM1 transcript variant 4	NM_001252030.1:c.-64+8396=	NM_001252030.1:c.-64+8384_-64+8396del	NM_001252030.1:c.-64+8385_-64+8396del	NM_001252030.1:c.-64+8388_-64+8396del	NM_001252030.1:c.-64+8390_-64+8396del	NM_001252030.1:c.-64+8391_-64+8396del	NM_001252030.1:c.-64+8392_-64+8396del	NM_001252030.1:c.-64+8393_-64+8396del	NM_001252030.1:c.-64+8394_-64+8396del	NM_001252030.1:c.-64+8395_-64+8396del	NM_001252030.1:c.-64+8396del	NM_001252030.1:c.-64+8396dup	NM_001252030.1:c.-64+8395_-64+8396dup	NM_001252030.1:c.-64+8394_-64+8396dup	NM_001252030.1:c.-64+8393_-64+8396dup	NM_001252030.1:c.-64+8392_-64+8396dup	NM_001252030.1:c.-64+8391_-64+8396dup	NM_001252030.1:c.-64+8388_-64+8396dup	NM_001252030.1:c.-64+8374_-64+8396dup	NM_001252030.1:c.-64+8396_-64+8397insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTT
TRPM1 transcript variant 4	NM_001252030.2:c.-64+8396=	NM_001252030.2:c.-64+8384_-64+8396del	NM_001252030.2:c.-64+8385_-64+8396del	NM_001252030.2:c.-64+8388_-64+8396del	NM_001252030.2:c.-64+8390_-64+8396del	NM_001252030.2:c.-64+8391_-64+8396del	NM_001252030.2:c.-64+8392_-64+8396del	NM_001252030.2:c.-64+8393_-64+8396del	NM_001252030.2:c.-64+8394_-64+8396del	NM_001252030.2:c.-64+8395_-64+8396del	NM_001252030.2:c.-64+8396del	NM_001252030.2:c.-64+8396dup	NM_001252030.2:c.-64+8395_-64+8396dup	NM_001252030.2:c.-64+8394_-64+8396dup	NM_001252030.2:c.-64+8393_-64+8396dup	NM_001252030.2:c.-64+8392_-64+8396dup	NM_001252030.2:c.-64+8391_-64+8396dup	NM_001252030.2:c.-64+8388_-64+8396dup	NM_001252030.2:c.-64+8374_-64+8396dup	NM_001252030.2:c.-64+8396_-64+8397insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTT
TRPM1 transcript variant 2	NM_002420.5:c.-64+8396=	NM_002420.5:c.-64+8384_-64+8396del	NM_002420.5:c.-64+8385_-64+8396del	NM_002420.5:c.-64+8388_-64+8396del	NM_002420.5:c.-64+8390_-64+8396del	NM_002420.5:c.-64+8391_-64+8396del	NM_002420.5:c.-64+8392_-64+8396del	NM_002420.5:c.-64+8393_-64+8396del	NM_002420.5:c.-64+8394_-64+8396del	NM_002420.5:c.-64+8395_-64+8396del	NM_002420.5:c.-64+8396del	NM_002420.5:c.-64+8396dup	NM_002420.5:c.-64+8395_-64+8396dup	NM_002420.5:c.-64+8394_-64+8396dup	NM_002420.5:c.-64+8393_-64+8396dup	NM_002420.5:c.-64+8392_-64+8396dup	NM_002420.5:c.-64+8391_-64+8396dup	NM_002420.5:c.-64+8388_-64+8396dup	NM_002420.5:c.-64+8374_-64+8396dup	NM_002420.5:c.-64+8396_-64+8397insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTT
TRPM1 transcript variant 2	NM_002420.6:c.-64+8396=	NM_002420.6:c.-64+8384_-64+8396del	NM_002420.6:c.-64+8385_-64+8396del	NM_002420.6:c.-64+8388_-64+8396del	NM_002420.6:c.-64+8390_-64+8396del	NM_002420.6:c.-64+8391_-64+8396del	NM_002420.6:c.-64+8392_-64+8396del	NM_002420.6:c.-64+8393_-64+8396del	NM_002420.6:c.-64+8394_-64+8396del	NM_002420.6:c.-64+8395_-64+8396del	NM_002420.6:c.-64+8396del	NM_002420.6:c.-64+8396dup	NM_002420.6:c.-64+8395_-64+8396dup	NM_002420.6:c.-64+8394_-64+8396dup	NM_002420.6:c.-64+8393_-64+8396dup	NM_002420.6:c.-64+8392_-64+8396dup	NM_002420.6:c.-64+8391_-64+8396dup	NM_002420.6:c.-64+8388_-64+8396dup	NM_002420.6:c.-64+8374_-64+8396dup	NM_002420.6:c.-64+8396_-64+8397insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTT

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#.

32 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40571493	Mar 14, 2006 (126)
2	HUMANGENOME_JCVI	ss95654315	Feb 13, 2009 (130)
3	SWEGEN	ss3013043837	Nov 08, 2017 (151)
4	URBANLAB	ss3650321827	Oct 12, 2018 (152)
5	EVA_DECODE	ss3697615813	Jul 13, 2019 (153)
6	EVA_DECODE	ss3697615814	Jul 13, 2019 (153)
7	EVA_DECODE	ss3697615815	Jul 13, 2019 (153)
8	EVA_DECODE	ss3697615816	Jul 13, 2019 (153)
9	PACBIO	ss3792823721	Jul 13, 2019 (153)
10	PACBIO	ss3797708175	Jul 13, 2019 (153)
11	EVA	ss3834163759	Apr 27, 2020 (154)
12	GNOMAD	ss4286251350	Apr 26, 2021 (155)
13	GNOMAD	ss4286251351	Apr 26, 2021 (155)
14	GNOMAD	ss4286251352	Apr 26, 2021 (155)
15	GNOMAD	ss4286251353	Apr 26, 2021 (155)
16	GNOMAD	ss4286251354	Apr 26, 2021 (155)
17	GNOMAD	ss4286251355	Apr 26, 2021 (155)
18	GNOMAD	ss4286251356	Apr 26, 2021 (155)
19	GNOMAD	ss4286251357	Apr 26, 2021 (155)
20	GNOMAD	ss4286251358	Apr 26, 2021 (155)
21	GNOMAD	ss4286251359	Apr 26, 2021 (155)
22	GNOMAD	ss4286251360	Apr 26, 2021 (155)
23	GNOMAD	ss4286251361	Apr 26, 2021 (155)
24	GNOMAD	ss4286251362	Apr 26, 2021 (155)
25	TOMMO_GENOMICS	ss5215515439	Apr 26, 2021 (155)
26	TOMMO_GENOMICS	ss5215515440	Apr 26, 2021 (155)
27	TOMMO_GENOMICS	ss5215515441	Apr 26, 2021 (155)
28	1000G_HIGH_COVERAGE	ss5297934013	Oct 16, 2022 (156)
29	1000G_HIGH_COVERAGE	ss5297934014	Oct 16, 2022 (156)
30	TOMMO_GENOMICS	ss5769120941	Oct 16, 2022 (156)
31	TOMMO_GENOMICS	ss5769120942	Oct 16, 2022 (156)
32	TOMMO_GENOMICS	ss5769120943	Oct 16, 2022 (156)
33	gnomAD - Genomes Submission ignored due to conflicting rows: Row 464835481 (NC_000015.10:31093260::A 871/60140) Row 464835482 (NC_000015.10:31093260::AA 31/60140) Row 464835483 (NC_000015.10:31093260::AAA 2/60140)...	-	Apr 26, 2021 (155)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 464835481 (NC_000015.10:31093260::A 871/60140) Row 464835482 (NC_000015.10:31093260::AA 31/60140) Row 464835483 (NC_000015.10:31093260::AAA 2/60140)...	-	Apr 26, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 464835481 (NC_000015.10:31093260::A 871/60140) Row 464835482 (NC_000015.10:31093260::AA 31/60140) Row 464835483 (NC_000015.10:31093260::AAA 2/60140)...	-	Apr 26, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 464835481 (NC_000015.10:31093260::A 871/60140) Row 464835482 (NC_000015.10:31093260::AA 31/60140) Row 464835483 (NC_000015.10:31093260::AAA 2/60140)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 464835481 (NC_000015.10:31093260::A 871/60140) Row 464835482 (NC_000015.10:31093260::AA 31/60140) Row 464835483 (NC_000015.10:31093260::AAA 2/60140)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 464835481 (NC_000015.10:31093260::A 871/60140) Row 464835482 (NC_000015.10:31093260::AA 31/60140) Row 464835483 (NC_000015.10:31093260::AAA 2/60140)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 464835481 (NC_000015.10:31093260::A 871/60140) Row 464835482 (NC_000015.10:31093260::AA 31/60140) Row 464835483 (NC_000015.10:31093260::AAA 2/60140)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 464835481 (NC_000015.10:31093260::A 871/60140) Row 464835482 (NC_000015.10:31093260::AA 31/60140) Row 464835483 (NC_000015.10:31093260::AAA 2/60140)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 464835481 (NC_000015.10:31093260::A 871/60140) Row 464835482 (NC_000015.10:31093260::AA 31/60140) Row 464835483 (NC_000015.10:31093260::AAA 2/60140)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 464835481 (NC_000015.10:31093260::A 871/60140) Row 464835482 (NC_000015.10:31093260::AA 31/60140) Row 464835483 (NC_000015.10:31093260::AAA 2/60140)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 464835481 (NC_000015.10:31093260::A 871/60140) Row 464835482 (NC_000015.10:31093260::AA 31/60140) Row 464835483 (NC_000015.10:31093260::AAA 2/60140)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 464835481 (NC_000015.10:31093260::A 871/60140) Row 464835482 (NC_000015.10:31093260::AA 31/60140) Row 464835483 (NC_000015.10:31093260::AAA 2/60140)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 464835481 (NC_000015.10:31093260::A 871/60140) Row 464835482 (NC_000015.10:31093260::AA 31/60140) Row 464835483 (NC_000015.10:31093260::AAA 2/60140)...	-	Apr 26, 2021 (155)
46	8.3KJPN Submission ignored due to conflicting rows: Row 73484746 (NC_000015.9:31385463:AAA: 143/15794) Row 73484747 (NC_000015.9:31385463:A: 1072/15794) Row 73484748 (NC_000015.9:31385463:AA: 6590/15794)	-	Apr 26, 2021 (155)
47	8.3KJPN Submission ignored due to conflicting rows: Row 73484746 (NC_000015.9:31385463:AAA: 143/15794) Row 73484747 (NC_000015.9:31385463:A: 1072/15794) Row 73484748 (NC_000015.9:31385463:AA: 6590/15794)	-	Apr 26, 2021 (155)
48	8.3KJPN Submission ignored due to conflicting rows: Row 73484746 (NC_000015.9:31385463:AAA: 143/15794) Row 73484747 (NC_000015.9:31385463:A: 1072/15794) Row 73484748 (NC_000015.9:31385463:AA: 6590/15794)	-	Apr 26, 2021 (155)
49	14KJPN Submission ignored due to conflicting rows: Row 102958045 (NC_000015.10:31093260:AA: 13635/26022) Row 102958046 (NC_000015.10:31093260:A: 2115/26022) Row 102958047 (NC_000015.10:31093260:AAA: 306/26022)	-	Oct 16, 2022 (156)
50	14KJPN Submission ignored due to conflicting rows: Row 102958045 (NC_000015.10:31093260:AA: 13635/26022) Row 102958046 (NC_000015.10:31093260:A: 2115/26022) Row 102958047 (NC_000015.10:31093260:AAA: 306/26022)	-	Oct 16, 2022 (156)
51	14KJPN Submission ignored due to conflicting rows: Row 102958045 (NC_000015.10:31093260:AA: 13635/26022) Row 102958046 (NC_000015.10:31093260:A: 2115/26022) Row 102958047 (NC_000015.10:31093260:AAA: 306/26022)	-	Oct 16, 2022 (156)
52	ALFA	NC_000015.10 - 31093261	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
7042621700	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4286251362	NC_000015.10:31093260:AAAAAAAAAAAA:	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
7042621700	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4286251361	NC_000015.10:31093260:AAAAAAAAA:	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
7042621700	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4286251360	NC_000015.10:31093260:AAAAAAA:	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
7042621700	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4286251359	NC_000015.10:31093260:AAAAAA:	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
7042621700	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4286251358	NC_000015.10:31093260:AAAAA:	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
7042621700	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3697615816, ss5297934014	NC_000015.10:31093260:AAAA:	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
7042621700	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3013043837, ss5215515439	NC_000015.9:31385463:AAA:	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5769120943	NC_000015.10:31093260:AAA:	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
7042621700	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3697615815	NC_000015.10:31093261:AAA:	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3792823721, ss3797708175, ss3834163759, ss5215515441	NC_000015.9:31385463:AA:	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3650321827, ss5769120941	NC_000015.10:31093260:AA:	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
7042621700	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3697615814	NC_000015.10:31093262:AA:	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss95654315	NT_010194.17:2176044:AA:	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5215515440	NC_000015.9:31385463:A:	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5769120942	NC_000015.10:31093260:A:	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7042621700	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3697615813	NC_000015.10:31093263:A:	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss40571493	NT_010194.17:2176020:A:	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4286251350, ss5297934013	NC_000015.10:31093260::A	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7042621700	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4286251351	NC_000015.10:31093260::AA	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7042621700	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4286251352	NC_000015.10:31093260::AAA	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7042621700	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4286251353	NC_000015.10:31093260::AAAA	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7042621700	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4286251354	NC_000015.10:31093260::AAAAA	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7042621700	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7042621700	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4286251355	NC_000015.10:31093260::AAAAAAAAA	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4286251356	NC_000015.10:31093260::AAAAAAAAAAA… NC_000015.10:31093260::AAAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4286251357	NC_000015.10:31093260::AAAAAAAAAAA… NC_000015.10:31093260::AAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAA	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3223793001	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAA:	NC_000015.10:31093260:AAAAAAAAAAAA… NC_000015.10:31093260:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

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

No publications for rs34790478

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

rs34790478