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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs780296175

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr15:27871191 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000053 (14/264690, TOPMED)
A=0.000024 (6/251376, GnomAD_exome)
A=0.000029 (4/140208, GnomAD) (+ 3 more)
A=0.000040 (5/125406, ALFA)
A=0.000008 (1/121200, ExAC)
A=0.00011 (9/78578, PAGE_STUDY)
Clinical Significance
Reported in ClinVar
Gene : Consequence
OCA2 : Missense Variant
Publications
1 citation
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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 141768 G=0.999951 A=0.000049
European Sub 119816 G=0.999967 A=0.000033
African Sub 9044 G=0.9997 A=0.0003
African Others Sub 352 G=1.000 A=0.000
African American Sub 8692 G=0.9997 A=0.0003
Asian Sub 3308 G=1.0000 A=0.0000
East Asian Sub 2682 G=1.0000 A=0.0000
Other Asian Sub 626 G=1.000 A=0.000
Latin American 1 Sub 790 G=1.000 A=0.000
Latin American 2 Sub 946 G=1.000 A=0.000
South Asian Sub 280 G=1.000 A=0.000
Other Sub 7584 G=1.0000 A=0.0000


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.999947 A=0.000053
gnomAD - Exomes Global Study-wide 251376 G=0.999976 A=0.000024
gnomAD - Exomes European Sub 135316 G=0.999963 A=0.000037
gnomAD - Exomes Asian Sub 49010 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 34586 G=0.99997 A=0.00003
gnomAD - Exomes African Sub 16250 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10074 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6140 G=1.0000 A=0.0000
gnomAD - Genomes Global Study-wide 140208 G=0.999971 A=0.000029
gnomAD - Genomes European Sub 75948 G=0.99999 A=0.00001
gnomAD - Genomes African Sub 42008 G=0.99993 A=0.00007
gnomAD - Genomes American Sub 13648 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3132 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2148 G=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 125406 G=0.999960 A=0.000040
Allele Frequency Aggregator European Sub 109726 G=0.999964 A=0.000036
Allele Frequency Aggregator Other Sub 6150 G=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 4206 G=0.9998 A=0.0002
Allele Frequency Aggregator Asian Sub 3308 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 946 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 790 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 280 G=1.000 A=0.000
ExAC Global Study-wide 121200 G=0.999992 A=0.000008
ExAC Europe Sub 73198 G=1.00000 A=0.00000
ExAC Asian Sub 25162 G=1.00000 A=0.00000
ExAC American Sub 11558 G=1.00000 A=0.00000
ExAC African Sub 10380 G=0.99990 A=0.00010
ExAC Other Sub 902 G=1.000 A=0.000
The PAGE Study Global Study-wide 78578 G=0.99989 A=0.00011
The PAGE Study AfricanAmerican Sub 32410 G=0.99978 A=0.00022
The PAGE Study Mexican Sub 10810 G=1.00000 A=0.00000
The PAGE Study Asian Sub 8318 G=1.0000 A=0.0000
The PAGE Study PuertoRican Sub 7908 G=1.0000 A=0.0000
The PAGE Study NativeHawaiian Sub 4534 G=1.0000 A=0.0000
The PAGE Study Cuban Sub 4230 G=0.9998 A=0.0002
The PAGE Study Dominican Sub 3820 G=1.0000 A=0.0000
The PAGE Study CentralAmerican Sub 2450 G=1.0000 A=0.0000
The PAGE Study SouthAmerican Sub 1982 G=1.0000 A=0.0000
The PAGE Study NativeAmerican Sub 1260 G=0.9992 A=0.0008
The PAGE Study SouthAsian Sub 856 G=1.000 A=0.000
Help

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.27871191G>A
GRCh37.p13 chr 15 NC_000015.9:g.28116337G>A
OCA2 RefSeqGene NG_009846.1:g.233122C>T
GRCh38.p14 chr 15 fix patch HG2139_PATCH NW_011332701.1:g.5478G>A
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8 NT_187660.1:g.5478G>A
Gene: OCA2, OCA2 melanosomal transmembrane protein (minus strand)
Molecule type Change Amino acid[Codon] SO Term
OCA2 transcript variant 1 NM_000275.3:c.2207C>T S [TCG] > L [TTG] Coding Sequence Variant
P protein isoform 1 NP_000266.2:p.Ser736Leu S (Ser) > L (Leu) Missense Variant
OCA2 transcript variant 2 NM_001300984.2:c.2135C>T S [TCG] > L [TTG] Coding Sequence Variant
P protein isoform 2 NP_001287913.1:p.Ser712Leu S (Ser) > L (Leu) Missense Variant
OCA2 transcript variant X17 XM_017022263.2:c.2104-197…

XM_017022263.2:c.2104-19716C>T

 		N/A Intron Variant
OCA2 transcript variant X20 XM_017022264.2:c.2104-197…

XM_017022264.2:c.2104-19716C>T

 		N/A Intron Variant
OCA2 transcript variant X19 XM_047432613.1:c.2080-197…

XM_047432613.1:c.2080-19716C>T

 		N/A Intron Variant
OCA2 transcript variant X21 XM_047432614.1:c.2080-197…

XM_047432614.1:c.2080-19716C>T

 		N/A Intron Variant
OCA2 transcript variant X23 XM_047432616.1:c.2032-197…

XM_047432616.1:c.2032-19716C>T

 		N/A Intron Variant
OCA2 transcript variant X24 XM_047432617.1:c.2008-197…

XM_047432617.1:c.2008-19716C>T

 		N/A Intron Variant
OCA2 transcript variant X25 XM_047432618.1:c.2008-197…

XM_047432618.1:c.2008-19716C>T

 		N/A Intron Variant
OCA2 transcript variant X26 XM_047432619.1:c.1942-197…

XM_047432619.1:c.1942-19716C>T

 		N/A Intron Variant
OCA2 transcript variant X27 XM_017022265.2:c. N/A Genic Downstream Transcript Variant
OCA2 transcript variant X1 XM_017022255.2:c.2231C>T S [TCG] > L [TTG] Coding Sequence Variant
P protein isoform X1 XP_016877744.1:p.Ser744Leu S (Ser) > L (Leu) Missense Variant
OCA2 transcript variant X2 XM_011521640.3:c.2207C>T S [TCG] > L [TTG] Coding Sequence Variant
P protein isoform X2 XP_011519942.1:p.Ser736Leu S (Ser) > L (Leu) Missense Variant
OCA2 transcript variant X3 XM_017022256.2:c.2231C>T S [TCG] > L [TTG] Coding Sequence Variant
P protein isoform X3 XP_016877745.1:p.Ser744Leu S (Ser) > L (Leu) Missense Variant
OCA2 transcript variant X4 XM_017022257.2:c.2159C>T S [TCG] > L [TTG] Coding Sequence Variant
P protein isoform X4 XP_016877746.1:p.Ser720Leu S (Ser) > L (Leu) Missense Variant
OCA2 transcript variant X5 XM_017022258.2:c.2231C>T S [TCG] > L [TTG] Coding Sequence Variant
P protein isoform X5 XP_016877747.1:p.Ser744Leu S (Ser) > L (Leu) Missense Variant
OCA2 transcript variant X6 XM_047432605.1:c.2135C>T S [TCG] > L [TTG] Coding Sequence Variant
P protein isoform X6 XP_047288561.1:p.Ser712Leu S (Ser) > L (Leu) Missense Variant
OCA2 transcript variant X7 XM_047432606.1:c.2207C>T S [TCG] > L [TTG] Coding Sequence Variant
P protein isoform X7 XP_047288562.1:p.Ser736Leu S (Ser) > L (Leu) Missense Variant
OCA2 transcript variant X8 XM_017022259.2:c.2159C>T S [TCG] > L [TTG] Coding Sequence Variant
P protein isoform X8 XP_016877748.1:p.Ser720Leu S (Ser) > L (Leu) Missense Variant
OCA2 transcript variant X9 XM_017022260.2:c.2093C>T S [TCG] > L [TTG] Coding Sequence Variant
P protein isoform X9 XP_016877749.1:p.Ser698Leu S (Ser) > L (Leu) Missense Variant
OCA2 transcript variant X10 XM_047432607.1:c.2159C>T S [TCG] > L [TTG] Coding Sequence Variant
P protein isoform X10 XP_047288563.1:p.Ser720Leu S (Ser) > L (Leu) Missense Variant
OCA2 transcript variant X11 XM_047432608.1:c.2069C>T S [TCG] > L [TTG] Coding Sequence Variant
P protein isoform X11 XP_047288564.1:p.Ser690Leu S (Ser) > L (Leu) Missense Variant
OCA2 transcript variant X12 XM_047432609.1:c.2135C>T S [TCG] > L [TTG] Coding Sequence Variant
P protein isoform X12 XP_047288565.1:p.Ser712Leu S (Ser) > L (Leu) Missense Variant
OCA2 transcript variant X13 XM_047432610.1:c.2093C>T S [TCG] > L [TTG] Coding Sequence Variant
P protein isoform X13 XP_047288566.1:p.Ser698Leu S (Ser) > L (Leu) Missense Variant
OCA2 transcript variant X14 XM_017022261.2:c.2036C>T S [TCG] > L [TTG] Coding Sequence Variant
P protein isoform X14 XP_016877750.1:p.Ser679Leu S (Ser) > L (Leu) Missense Variant
OCA2 transcript variant X15 XM_017022262.2:c.2231C>T S [TCG] > L [TTG] Coding Sequence Variant
P protein isoform X15 XP_016877751.1:p.Ser744Leu S (Ser) > L (Leu) Missense Variant
OCA2 transcript variant X16 XM_047432611.1:c.2069C>T S [TCG] > L [TTG] Coding Sequence Variant
P protein isoform X16 XP_047288567.1:p.Ser690Leu S (Ser) > L (Leu) Missense Variant
OCA2 transcript variant X18 XM_047432612.1:c.2207C>T S [TCG] > L [TTG] Coding Sequence Variant
P protein isoform X18 XP_047288568.1:p.Ser736Leu S (Ser) > L (Leu) Missense Variant
OCA2 transcript variant X22 XM_047432615.1:c.2159C>T S [TCG] > L [TTG] Coding Sequence Variant
P protein isoform X22 XP_047288571.1:p.Ser720Leu S (Ser) > L (Leu) Missense Variant
OCA2 transcript variant X28 XR_001751294.2:n. N/A Genic Downstream Transcript Variant
Help

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.

Allele: A (allele ID: 192718 )
ClinVar Accession Disease Names Clinical Significance
RCV000176150.4 not specified Uncertain-Significance
RCV000192656.8 Tyrosinase-positive oculocutaneous albinism Conflicting-Interpretations-Of-Pathogenicity
RCV000724171.5 not provided Conflicting-Interpretations-Of-Pathogenicity
Help

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 G= A
GRCh38.p14 chr 15 NC_000015.10:g.27871191= NC_000015.10:g.27871191G>A
GRCh37.p13 chr 15 NC_000015.9:g.28116337= NC_000015.9:g.28116337G>A
OCA2 RefSeqGene NG_009846.1:g.233122= NG_009846.1:g.233122C>T
OCA2 transcript variant 1 NM_000275.3:c.2207= NM_000275.3:c.2207C>T
OCA2 transcript variant 1 NM_000275.2:c.2207= NM_000275.2:c.2207C>T
OCA2 transcript variant 2 NM_001300984.2:c.2135= NM_001300984.2:c.2135C>T
OCA2 transcript variant 2 NM_001300984.1:c.2135= NM_001300984.1:c.2135C>T
GRCh38.p14 chr 15 fix patch HG2139_PATCH NW_011332701.1:g.5478= NW_011332701.1:g.5478G>A
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8 NT_187660.1:g.5478= NT_187660.1:g.5478G>A
OCA2 transcript variant X2 XM_011521640.3:c.2207= XM_011521640.3:c.2207C>T
OCA2 transcript variant X2 XM_011521640.2:c.2207= XM_011521640.2:c.2207C>T
OCA2 transcript variant X2 XM_011521640.1:c.2207= XM_011521640.1:c.2207C>T
OCA2 transcript variant X3 XM_017022256.2:c.2231= XM_017022256.2:c.2231C>T
OCA2 transcript variant X3 XM_017022256.1:c.2231= XM_017022256.1:c.2231C>T
OCA2 transcript variant X4 XM_017022257.2:c.2159= XM_017022257.2:c.2159C>T
OCA2 transcript variant X4 XM_017022257.1:c.2159= XM_017022257.1:c.2159C>T
OCA2 transcript variant X8 XM_017022259.2:c.2159= XM_017022259.2:c.2159C>T
OCA2 transcript variant X6 XM_017022259.1:c.2159= XM_017022259.1:c.2159C>T
OCA2 transcript variant X9 XM_017022260.2:c.2093= XM_017022260.2:c.2093C>T
OCA2 transcript variant X7 XM_017022260.1:c.2093= XM_017022260.1:c.2093C>T
OCA2 transcript variant X15 XM_017022262.2:c.2231= XM_017022262.2:c.2231C>T
OCA2 transcript variant X9 XM_017022262.1:c.2231= XM_017022262.1:c.2231C>T
OCA2 transcript variant X1 XM_017022255.2:c.2231= XM_017022255.2:c.2231C>T
OCA2 transcript variant X1 XM_017022255.1:c.2231= XM_017022255.1:c.2231C>T
OCA2 transcript variant X14 XM_017022261.2:c.2036= XM_017022261.2:c.2036C>T
OCA2 transcript variant X8 XM_017022261.1:c.2036= XM_017022261.1:c.2036C>T
OCA2 transcript variant X5 XM_017022258.2:c.2231= XM_017022258.2:c.2231C>T
OCA2 transcript variant X5 XM_017022258.1:c.2231= XM_017022258.1:c.2231C>T
OCA2 transcript variant X22 XM_047432615.1:c.2159= XM_047432615.1:c.2159C>T
OCA2 transcript variant X10 XM_047432607.1:c.2159= XM_047432607.1:c.2159C>T
OCA2 transcript variant X6 XM_047432605.1:c.2135= XM_047432605.1:c.2135C>T
OCA2 transcript variant X11 XM_047432608.1:c.2069= XM_047432608.1:c.2069C>T
OCA2 transcript variant X16 XM_047432611.1:c.2069= XM_047432611.1:c.2069C>T
OCA2 transcript variant X18 XM_047432612.1:c.2207= XM_047432612.1:c.2207C>T
OCA2 transcript variant X7 XM_047432606.1:c.2207= XM_047432606.1:c.2207C>T
OCA2 transcript variant X12 XM_047432609.1:c.2135= XM_047432609.1:c.2135C>T
OCA2 transcript variant X13 XM_047432610.1:c.2093= XM_047432610.1:c.2093C>T
P protein isoform 1 NP_000266.2:p.Ser736= NP_000266.2:p.Ser736Leu
P protein isoform 2 NP_001287913.1:p.Ser712= NP_001287913.1:p.Ser712Leu
P protein isoform X2 XP_011519942.1:p.Ser736= XP_011519942.1:p.Ser736Leu
P protein isoform X3 XP_016877745.1:p.Ser744= XP_016877745.1:p.Ser744Leu
P protein isoform X4 XP_016877746.1:p.Ser720= XP_016877746.1:p.Ser720Leu
P protein isoform X8 XP_016877748.1:p.Ser720= XP_016877748.1:p.Ser720Leu
P protein isoform X9 XP_016877749.1:p.Ser698= XP_016877749.1:p.Ser698Leu
P protein isoform X15 XP_016877751.1:p.Ser744= XP_016877751.1:p.Ser744Leu
P protein isoform X1 XP_016877744.1:p.Ser744= XP_016877744.1:p.Ser744Leu
P protein isoform X14 XP_016877750.1:p.Ser679= XP_016877750.1:p.Ser679Leu
P protein isoform X5 XP_016877747.1:p.Ser744= XP_016877747.1:p.Ser744Leu
P protein isoform X22 XP_047288571.1:p.Ser720= XP_047288571.1:p.Ser720Leu
P protein isoform X10 XP_047288563.1:p.Ser720= XP_047288563.1:p.Ser720Leu
P protein isoform X6 XP_047288561.1:p.Ser712= XP_047288561.1:p.Ser712Leu
P protein isoform X11 XP_047288564.1:p.Ser690= XP_047288564.1:p.Ser690Leu
P protein isoform X16 XP_047288567.1:p.Ser690= XP_047288567.1:p.Ser690Leu
P protein isoform X18 XP_047288568.1:p.Ser736= XP_047288568.1:p.Ser736Leu
P protein isoform X7 XP_047288562.1:p.Ser736= XP_047288562.1:p.Ser736Leu
P protein isoform X12 XP_047288565.1:p.Ser712= XP_047288565.1:p.Ser712Leu
P protein isoform X13 XP_047288566.1:p.Ser698= XP_047288566.1:p.Ser698Leu
OCA2 transcript variant X17 XM_017022263.2:c.2104-19716= XM_017022263.2:c.2104-19716C>T
OCA2 transcript variant X20 XM_017022264.2:c.2104-19716= XM_017022264.2:c.2104-19716C>T
OCA2 transcript variant X19 XM_047432613.1:c.2080-19716= XM_047432613.1:c.2080-19716C>T
OCA2 transcript variant X21 XM_047432614.1:c.2080-19716= XM_047432614.1:c.2080-19716C>T
OCA2 transcript variant X23 XM_047432616.1:c.2032-19716= XM_047432616.1:c.2032-19716C>T
OCA2 transcript variant X24 XM_047432617.1:c.2008-19716= XM_047432617.1:c.2008-19716C>T
OCA2 transcript variant X25 XM_047432618.1:c.2008-19716= XM_047432618.1:c.2008-19716C>T
OCA2 transcript variant X26 XM_047432619.1:c.1942-19716= XM_047432619.1:c.1942-19716C>T
Help

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#.

19 SubSNP, 6 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1691716741 Apr 01, 2015 (144)
2 ILLUMINA ss1946388435 Feb 12, 2016 (147)
3 ILLUMINA ss1959597359 Feb 12, 2016 (147)
4 HUMAN_LONGEVITY ss2205517276 Dec 20, 2016 (150)
5 GNOMAD ss2741065358 Nov 08, 2017 (151)
6 AFFY ss2985035002 Nov 08, 2017 (151)
7 ILLUMINA ss3021616081 Nov 08, 2017 (151)
8 ILLUMINA ss3625669054 Oct 12, 2018 (152)
9 ILLUMINA ss3644641560 Oct 12, 2018 (152)
10 ILLUMINA ss3652015406 Oct 12, 2018 (152)
11 ILLUMINA ss3653806715 Oct 12, 2018 (152)
12 ILLUMINA ss3725484607 Jul 13, 2019 (153)
13 ILLUMINA ss3744128646 Jul 13, 2019 (153)
14 PAGE_CC ss3771818357 Jul 13, 2019 (153)
15 GNOMAD ss4285901725 Apr 26, 2021 (155)
16 TOPMED ss4985673948 Apr 26, 2021 (155)
17 EVA ss5847736104 Oct 17, 2022 (156)
18 EVA ss5948583091 Oct 17, 2022 (156)
19 EVA ss5979455480 Oct 17, 2022 (156)
20 ExAC NC_000015.9 - 28116337 Oct 12, 2018 (152)
21 gnomAD - Genomes NC_000015.10 - 27871191 Apr 26, 2021 (155)
22 gnomAD - Exomes NC_000015.9 - 28116337 Jul 13, 2019 (153)
23 The PAGE Study NC_000015.10 - 27871191 Jul 13, 2019 (153)
24 TopMed NC_000015.10 - 27871191 Apr 26, 2021 (155)
25 ALFA NC_000015.10 - 27871191 Apr 26, 2021 (155)
26 ClinVar RCV000176150.4 Oct 17, 2022 (156)
27 ClinVar RCV000192656.8 Oct 17, 2022 (156)
28 ClinVar RCV000724171.5 Oct 17, 2022 (156)
Help

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
2081485, 10328643, ss1691716741, ss1946388435, ss1959597359, ss2741065358, ss2985035002, ss3021616081, ss3625669054, ss3644641560, ss3652015406, ss3653806715, ss3744128646, ss5847736104, ss5948583091, ss5979455480 NC_000015.9:28116336:G:A NC_000015.10:27871190:G:A (self)
RCV000176150.4, RCV000192656.8, RCV000724171.5, 464238495, 1039826, 201219608, 15815542241, ss2205517276, ss3725484607, ss3771818357, ss4285901725, ss4985673948 NC_000015.10:27871190:G:A NC_000015.10:27871190:G:A (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs780296175
PMID Title Author Year Journal
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
Help

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.

Software version is: 2.0.1.post761+d5e8e07