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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.

rs71640256

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:142595249 (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
C>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.003510 (929/264690, TOPMED)
T=0.002930 (411/140256, GnomAD)
T=0.00398 (111/27874, ALFA) (+ 12 more)
T=0.00484 (63/13006, GO-ESP)
T=0.0036 (23/6404, 1000G_30x)
T=0.0036 (18/5008, 1000G)
T=0.0007 (3/4480, Estonian)
T=0.0000 (0/2920, KOREAN)
T=0.005 (5/998, GoNL)
T=0.003 (2/609, Vietnamese)
T=0.020 (12/600, NorthernSweden)
T=0.002 (1/534, MGP)
T=0.005 (1/216, Qatari)
C=0.5 (3/6, SGDP_PRJ)
T=0.5 (3/6, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FGF1 : 3 Prime UTR 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 27874 C=0.99602 T=0.00398
European Sub 20346 C=0.99582 T=0.00418
African Sub 3540 C=0.9975 T=0.0025
African Others Sub 122 C=1.000 T=0.000
African American Sub 3418 C=0.9974 T=0.0026
Asian Sub 168 C=1.000 T=0.000
East Asian Sub 112 C=1.000 T=0.000
Other Asian Sub 56 C=1.00 T=0.00
Latin American 1 Sub 146 C=1.000 T=0.000
Latin American 2 Sub 610 C=0.992 T=0.008
South Asian Sub 98 C=1.00 T=0.00
Other Sub 2966 C=0.9960 T=0.0040


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 C=0.996490 T=0.003510
gnomAD - Genomes Global Study-wide 140256 C=0.997070 T=0.002930
gnomAD - Genomes European Sub 75946 C=0.99593 T=0.00407
gnomAD - Genomes African Sub 42042 C=0.99902 T=0.00098
gnomAD - Genomes American Sub 13660 C=0.99824 T=0.00176
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.9913 T=0.0087
gnomAD - Genomes East Asian Sub 3132 C=0.9994 T=0.0006
gnomAD - Genomes Other Sub 2152 C=0.9972 T=0.0028
Allele Frequency Aggregator Total Global 27874 C=0.99602 T=0.00398
Allele Frequency Aggregator European Sub 20346 C=0.99582 T=0.00418
Allele Frequency Aggregator African Sub 3540 C=0.9975 T=0.0025
Allele Frequency Aggregator Other Sub 2966 C=0.9960 T=0.0040
Allele Frequency Aggregator Latin American 2 Sub 610 C=0.992 T=0.008
Allele Frequency Aggregator Asian Sub 168 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=0.00
GO Exome Sequencing Project Global Study-wide 13006 C=0.99516 T=0.00484
GO Exome Sequencing Project European American Sub 8600 C=0.9936 T=0.0064
GO Exome Sequencing Project African American Sub 4406 C=0.9982 T=0.0018
1000Genomes_30x Global Study-wide 6404 C=0.9964 T=0.0036
1000Genomes_30x African Sub 1786 C=1.0000 T=0.0000
1000Genomes_30x Europe Sub 1266 C=0.9984 T=0.0016
1000Genomes_30x South Asian Sub 1202 C=0.9867 T=0.0133
1000Genomes_30x East Asian Sub 1170 C=0.9966 T=0.0034
1000Genomes_30x American Sub 980 C=0.999 T=0.001
1000Genomes Global Study-wide 5008 C=0.9964 T=0.0036
1000Genomes African Sub 1322 C=1.0000 T=0.0000
1000Genomes East Asian Sub 1008 C=0.9970 T=0.0030
1000Genomes Europe Sub 1006 C=0.9990 T=0.0010
1000Genomes South Asian Sub 978 C=0.987 T=0.013
1000Genomes American Sub 694 C=0.999 T=0.001
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9993 T=0.0007
KOREAN population from KRGDB KOREAN Study-wide 2920 C=1.0000 T=0.0000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.995 T=0.005
A Vietnamese Genetic Variation Database Global Study-wide 609 C=0.997 T=0.003
Northern Sweden ACPOP Study-wide 600 C=0.980 T=0.020
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.998 T=0.002
Qatari Global Study-wide 216 C=0.995 T=0.005
SGDP_PRJ Global Study-wide 6 C=0.5 T=0.5
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 5 NC_000005.10:g.142595249C>A
GRCh38.p14 chr 5 NC_000005.10:g.142595249C>G
GRCh38.p14 chr 5 NC_000005.10:g.142595249C>T
GRCh37.p13 chr 5 NC_000005.9:g.141974814C>A
GRCh37.p13 chr 5 NC_000005.9:g.141974814C>G
GRCh37.p13 chr 5 NC_000005.9:g.141974814C>T
Gene: FGF1, fibroblast growth factor 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FGF1 transcript variant 7 NM_001257205.1:c.*41= N/A 3 Prime UTR Variant
FGF1 transcript variant 11 NM_001257209.1:c.*41= N/A 3 Prime UTR Variant
FGF1 transcript variant 1 NM_000800.5:c.*41= N/A 3 Prime UTR Variant
FGF1 transcript variant 4 NM_001144892.3:c.*41= N/A 3 Prime UTR Variant
FGF1 transcript variant 20 NM_001354956.2:c.*41= N/A 3 Prime UTR Variant
FGF1 transcript variant 10 NM_001257208.2:c.*41= N/A 3 Prime UTR Variant
FGF1 transcript variant 19 NM_001354955.2:c.*41= N/A 3 Prime UTR Variant
FGF1 transcript variant 15 NM_001354951.2:c.*41= N/A 3 Prime UTR Variant
FGF1 transcript variant 17 NM_001354953.2:c.*41= N/A 3 Prime UTR Variant
FGF1 transcript variant 14 NM_001257212.2:c.*41= N/A 3 Prime UTR Variant
FGF1 transcript variant 23 NM_001354959.2:c.*222= N/A 3 Prime UTR Variant
FGF1 transcript variant 13 NM_001257211.2:c.*41= N/A 3 Prime UTR Variant
FGF1 transcript variant 18 NM_001354954.2:c.*41= N/A 3 Prime UTR Variant
FGF1 transcript variant 16 NM_001354952.2:c.*41= N/A 3 Prime UTR Variant
FGF1 transcript variant 2 NM_033136.4:c.*222= N/A 3 Prime UTR Variant
FGF1 transcript variant 25 NM_001354962.2:c.*222= N/A 3 Prime UTR Variant
FGF1 transcript variant 22 NM_001354958.2:c.*41= N/A 3 Prime UTR Variant
FGF1 transcript variant 3 NM_033137.4:c.*222= N/A 3 Prime UTR Variant
FGF1 transcript variant 21 NM_001354957.2:c.*41= N/A 3 Prime UTR Variant
FGF1 transcript variant 5 NM_001144934.2:c.*41= N/A 3 Prime UTR Variant
FGF1 transcript variant 27 NM_001354964.2:c.*222= N/A 3 Prime UTR Variant
FGF1 transcript variant 24 NM_001354961.2:c.*222= N/A 3 Prime UTR Variant
FGF1 transcript variant 26 NM_001354963.2:c.*222= N/A 3 Prime UTR Variant
FGF1 transcript variant 6 NM_001144935.2:c.*41= N/A 3 Prime UTR Variant
FGF1 transcript variant 8 NM_001257206.2:c.*41= N/A 3 Prime UTR Variant
FGF1 transcript variant 12 NM_001257210.2:c.*41= N/A 3 Prime UTR Variant
FGF1 transcript variant 9 NM_001257207.2:c.*41= N/A 3 Prime UTR 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.

Not Reported in ClinVar
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 C= A G T
GRCh38.p14 chr 5 NC_000005.10:g.142595249= NC_000005.10:g.142595249C>A NC_000005.10:g.142595249C>G NC_000005.10:g.142595249C>T
GRCh37.p13 chr 5 NC_000005.9:g.141974814= NC_000005.9:g.141974814C>A NC_000005.9:g.141974814C>G NC_000005.9:g.141974814C>T
FGF1 transcript variant 1 NM_000800.5:c.*41= NM_000800.5:c.*41G>T NM_000800.5:c.*41G>C NM_000800.5:c.*41G>A
FGF1 transcript variant 1 NM_000800.4:c.*41= NM_000800.4:c.*41G>T NM_000800.4:c.*41G>C NM_000800.4:c.*41G>A
FGF1 transcript variant 2 NM_033136.4:c.*222= NM_033136.4:c.*222G>T NM_033136.4:c.*222G>C NM_033136.4:c.*222G>A
FGF1 transcript variant 2 NM_033136.3:c.*222= NM_033136.3:c.*222G>T NM_033136.3:c.*222G>C NM_033136.3:c.*222G>A
FGF1 transcript variant 3 NM_033137.4:c.*222= NM_033137.4:c.*222G>T NM_033137.4:c.*222G>C NM_033137.4:c.*222G>A
FGF1 transcript variant 3 NM_033137.3:c.*222= NM_033137.3:c.*222G>T NM_033137.3:c.*222G>C NM_033137.3:c.*222G>A
FGF1 transcript variant 3 NM_033137.2:c.*222= NM_033137.2:c.*222G>T NM_033137.2:c.*222G>C NM_033137.2:c.*222G>A
FGF1 transcript variant 4 NM_001144892.3:c.*41= NM_001144892.3:c.*41G>T NM_001144892.3:c.*41G>C NM_001144892.3:c.*41G>A
FGF1 transcript variant 4 NM_001144892.2:c.*41= NM_001144892.2:c.*41G>T NM_001144892.2:c.*41G>C NM_001144892.2:c.*41G>A
FGF1 transcript variant 19 NM_001354955.2:c.*41= NM_001354955.2:c.*41G>T NM_001354955.2:c.*41G>C NM_001354955.2:c.*41G>A
FGF1 transcript variant 19 NM_001354955.1:c.*41= NM_001354955.1:c.*41G>T NM_001354955.1:c.*41G>C NM_001354955.1:c.*41G>A
FGF1 transcript variant 18 NM_001354954.2:c.*41= NM_001354954.2:c.*41G>T NM_001354954.2:c.*41G>C NM_001354954.2:c.*41G>A
FGF1 transcript variant 18 NM_001354954.1:c.*41= NM_001354954.1:c.*41G>T NM_001354954.1:c.*41G>C NM_001354954.1:c.*41G>A
FGF1 transcript variant 26 NM_001354963.2:c.*222= NM_001354963.2:c.*222G>T NM_001354963.2:c.*222G>C NM_001354963.2:c.*222G>A
FGF1 transcript variant 26 NM_001354963.1:c.*222= NM_001354963.1:c.*222G>T NM_001354963.1:c.*222G>C NM_001354963.1:c.*222G>A
FGF1 transcript variant 8 NM_001257206.2:c.*41= NM_001257206.2:c.*41G>T NM_001257206.2:c.*41G>C NM_001257206.2:c.*41G>A
FGF1 transcript variant 8 NM_001257206.1:c.*41= NM_001257206.1:c.*41G>T NM_001257206.1:c.*41G>C NM_001257206.1:c.*41G>A
FGF1 transcript variant 15 NM_001354951.2:c.*41= NM_001354951.2:c.*41G>T NM_001354951.2:c.*41G>C NM_001354951.2:c.*41G>A
FGF1 transcript variant 15 NM_001354951.1:c.*41= NM_001354951.1:c.*41G>T NM_001354951.1:c.*41G>C NM_001354951.1:c.*41G>A
FGF1 transcript variant 17 NM_001354953.2:c.*41= NM_001354953.2:c.*41G>T NM_001354953.2:c.*41G>C NM_001354953.2:c.*41G>A
FGF1 transcript variant 17 NM_001354953.1:c.*41= NM_001354953.1:c.*41G>T NM_001354953.1:c.*41G>C NM_001354953.1:c.*41G>A
FGF1 transcript variant 21 NM_001354957.2:c.*41= NM_001354957.2:c.*41G>T NM_001354957.2:c.*41G>C NM_001354957.2:c.*41G>A
FGF1 transcript variant 21 NM_001354957.1:c.*41= NM_001354957.1:c.*41G>T NM_001354957.1:c.*41G>C NM_001354957.1:c.*41G>A
FGF1 transcript variant 23 NM_001354959.2:c.*222= NM_001354959.2:c.*222G>T NM_001354959.2:c.*222G>C NM_001354959.2:c.*222G>A
FGF1 transcript variant 23 NM_001354959.1:c.*222= NM_001354959.1:c.*222G>T NM_001354959.1:c.*222G>C NM_001354959.1:c.*222G>A
FGF1 transcript variant 20 NM_001354956.2:c.*41= NM_001354956.2:c.*41G>T NM_001354956.2:c.*41G>C NM_001354956.2:c.*41G>A
FGF1 transcript variant 20 NM_001354956.1:c.*41= NM_001354956.1:c.*41G>T NM_001354956.1:c.*41G>C NM_001354956.1:c.*41G>A
FGF1 transcript variant 24 NM_001354961.2:c.*222= NM_001354961.2:c.*222G>T NM_001354961.2:c.*222G>C NM_001354961.2:c.*222G>A
FGF1 transcript variant 24 NM_001354961.1:c.*222= NM_001354961.1:c.*222G>T NM_001354961.1:c.*222G>C NM_001354961.1:c.*222G>A
FGF1 transcript variant 5 NM_001144934.2:c.*41= NM_001144934.2:c.*41G>T NM_001144934.2:c.*41G>C NM_001144934.2:c.*41G>A
FGF1 transcript variant 5 NM_001144934.1:c.*41= NM_001144934.1:c.*41G>T NM_001144934.1:c.*41G>C NM_001144934.1:c.*41G>A
FGF1 transcript variant 22 NM_001354958.2:c.*41= NM_001354958.2:c.*41G>T NM_001354958.2:c.*41G>C NM_001354958.2:c.*41G>A
FGF1 transcript variant 22 NM_001354958.1:c.*41= NM_001354958.1:c.*41G>T NM_001354958.1:c.*41G>C NM_001354958.1:c.*41G>A
FGF1 transcript variant 16 NM_001354952.2:c.*41= NM_001354952.2:c.*41G>T NM_001354952.2:c.*41G>C NM_001354952.2:c.*41G>A
FGF1 transcript variant 16 NM_001354952.1:c.*41= NM_001354952.1:c.*41G>T NM_001354952.1:c.*41G>C NM_001354952.1:c.*41G>A
FGF1 transcript variant 9 NM_001257207.2:c.*41= NM_001257207.2:c.*41G>T NM_001257207.2:c.*41G>C NM_001257207.2:c.*41G>A
FGF1 transcript variant 9 NM_001257207.1:c.*41= NM_001257207.1:c.*41G>T NM_001257207.1:c.*41G>C NM_001257207.1:c.*41G>A
FGF1 transcript variant 10 NM_001257208.2:c.*41= NM_001257208.2:c.*41G>T NM_001257208.2:c.*41G>C NM_001257208.2:c.*41G>A
FGF1 transcript variant 10 NM_001257208.1:c.*41= NM_001257208.1:c.*41G>T NM_001257208.1:c.*41G>C NM_001257208.1:c.*41G>A
FGF1 transcript variant 13 NM_001257211.2:c.*41= NM_001257211.2:c.*41G>T NM_001257211.2:c.*41G>C NM_001257211.2:c.*41G>A
FGF1 transcript variant 13 NM_001257211.1:c.*41= NM_001257211.1:c.*41G>T NM_001257211.1:c.*41G>C NM_001257211.1:c.*41G>A
FGF1 transcript variant 12 NM_001257210.2:c.*41= NM_001257210.2:c.*41G>T NM_001257210.2:c.*41G>C NM_001257210.2:c.*41G>A
FGF1 transcript variant 12 NM_001257210.1:c.*41= NM_001257210.1:c.*41G>T NM_001257210.1:c.*41G>C NM_001257210.1:c.*41G>A
FGF1 transcript variant 6 NM_001144935.2:c.*41= NM_001144935.2:c.*41G>T NM_001144935.2:c.*41G>C NM_001144935.2:c.*41G>A
FGF1 transcript variant 6 NM_001144935.1:c.*41= NM_001144935.1:c.*41G>T NM_001144935.1:c.*41G>C NM_001144935.1:c.*41G>A
FGF1 transcript variant 27 NM_001354964.2:c.*222= NM_001354964.2:c.*222G>T NM_001354964.2:c.*222G>C NM_001354964.2:c.*222G>A
FGF1 transcript variant 27 NM_001354964.1:c.*222= NM_001354964.1:c.*222G>T NM_001354964.1:c.*222G>C NM_001354964.1:c.*222G>A
FGF1 transcript variant 14 NM_001257212.2:c.*41= NM_001257212.2:c.*41G>T NM_001257212.2:c.*41G>C NM_001257212.2:c.*41G>A
FGF1 transcript variant 14 NM_001257212.1:c.*41= NM_001257212.1:c.*41G>T NM_001257212.1:c.*41G>C NM_001257212.1:c.*41G>A
FGF1 transcript variant 25 NM_001354962.2:c.*222= NM_001354962.2:c.*222G>T NM_001354962.2:c.*222G>C NM_001354962.2:c.*222G>A
FGF1 transcript variant 25 NM_001354962.1:c.*222= NM_001354962.1:c.*222G>T NM_001354962.1:c.*222G>C NM_001354962.1:c.*222G>A
FGF1 transcript variant 7 NR_026695.1:n.992= NR_026695.1:n.992G>T NR_026695.1:n.992G>C NR_026695.1:n.992G>A
FGF1 transcript variant 7 NM_001257205.1:c.*41= NM_001257205.1:c.*41G>T NM_001257205.1:c.*41G>C NM_001257205.1:c.*41G>A
FGF1 transcript variant 8 NR_026696.1:n.989= NR_026696.1:n.989G>T NR_026696.1:n.989G>C NR_026696.1:n.989G>A
FGF1 transcript variant 11 NM_001257209.1:c.*41= NM_001257209.1:c.*41G>T NM_001257209.1:c.*41G>C NM_001257209.1:c.*41G>A
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#.

36 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 CNG ss99307948 Feb 13, 2009 (130)
2 1000GENOMES ss488817332 May 04, 2012 (137)
3 CLINSEQ_SNP ss491875090 May 04, 2012 (137)
4 NHLBI-ESP ss712671694 Apr 25, 2013 (138)
5 EVA-GONL ss982200163 Aug 21, 2014 (142)
6 1000GENOMES ss1317517161 Aug 21, 2014 (142)
7 EVA_DECODE ss1591729921 Apr 01, 2015 (144)
8 EVA_UK10K_ALSPAC ss1614172410 Apr 01, 2015 (144)
9 EVA_UK10K_ALSPAC ss1614172411 Apr 01, 2015 (144)
10 EVA_UK10K_TWINSUK ss1657166443 Apr 01, 2015 (144)
11 EVA_UK10K_TWINSUK ss1657166444 Apr 01, 2015 (144)
12 EVA_EXAC ss1688017495 Apr 01, 2015 (144)
13 EVA_MGP ss1711100845 Apr 01, 2015 (144)
14 WEILL_CORNELL_DGM ss1925454634 Feb 12, 2016 (147)
15 HUMAN_LONGEVITY ss2278787719 Dec 20, 2016 (150)
16 GNOMAD ss2747479643 Nov 08, 2017 (151)
17 GNOMAD ss2831647716 Nov 08, 2017 (151)
18 SWEGEN ss2997913350 Nov 08, 2017 (151)
19 EGCUT_WGS ss3665829602 Jul 13, 2019 (153)
20 EVA_DECODE ss3715846615 Jul 13, 2019 (153)
21 ACPOP ss3732879769 Jul 13, 2019 (153)
22 KHV_HUMAN_GENOMES ss3807322301 Jul 13, 2019 (153)
23 EVA ss3824125022 Apr 26, 2020 (154)
24 SGDP_PRJ ss3863128357 Apr 26, 2020 (154)
25 KRGDB ss3909793116 Apr 26, 2020 (154)
26 FSA-LAB ss3984318743 Apr 26, 2021 (155)
27 FSA-LAB ss3984318744 Apr 26, 2021 (155)
28 TOPMED ss4681374060 Apr 26, 2021 (155)
29 1000G_HIGH_COVERAGE ss5266106954 Oct 17, 2022 (156)
30 EVA ss5361448062 Oct 17, 2022 (156)
31 HUGCELL_USP ss5464045596 Oct 17, 2022 (156)
32 1000G_HIGH_COVERAGE ss5550891314 Oct 17, 2022 (156)
33 SANFORD_IMAGENETICS ss5639028507 Oct 17, 2022 (156)
34 EVA ss5835744634 Oct 17, 2022 (156)
35 EVA ss5896627098 Oct 17, 2022 (156)
36 EVA ss5967503506 Oct 17, 2022 (156)
37 1000Genomes NC_000005.9 - 141974814 Oct 12, 2018 (152)
38 1000Genomes_30x NC_000005.10 - 142595249 Oct 17, 2022 (156)
39 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 16247606 (NC_000005.9:141974813:C:C 3830/3854, NC_000005.9:141974813:C:T 24/3854)
Row 16247607 (NC_000005.9:141974813:C:C 3854/3854, NC_000005.9:141974813:C:A 0/3854)

- Oct 12, 2018 (152)
40 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 16247606 (NC_000005.9:141974813:C:C 3830/3854, NC_000005.9:141974813:C:T 24/3854)
Row 16247607 (NC_000005.9:141974813:C:C 3854/3854, NC_000005.9:141974813:C:A 0/3854)

- Oct 12, 2018 (152)
41 Genetic variation in the Estonian population NC_000005.9 - 141974814 Oct 12, 2018 (152)
42 ExAC

Submission ignored due to conflicting rows:
Row 8025519 (NC_000005.9:141974813:C:C 114921/114922, NC_000005.9:141974813:C:G 1/114922)
Row 8025520 (NC_000005.9:141974813:C:C 114296/114922, NC_000005.9:141974813:C:T 626/114922)

- Oct 12, 2018 (152)
43 ExAC

Submission ignored due to conflicting rows:
Row 8025519 (NC_000005.9:141974813:C:C 114921/114922, NC_000005.9:141974813:C:G 1/114922)
Row 8025520 (NC_000005.9:141974813:C:C 114296/114922, NC_000005.9:141974813:C:T 626/114922)

- Oct 12, 2018 (152)
44 gnomAD - Genomes NC_000005.10 - 142595249 Apr 26, 2021 (155)
45 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 4452572 (NC_000005.9:141974813:C:C 228443/228444, NC_000005.9:141974813:C:G 1/228444)
Row 4452573 (NC_000005.9:141974813:C:C 227231/228444, NC_000005.9:141974813:C:T 1213/228444)

- Jul 13, 2019 (153)
46 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 4452572 (NC_000005.9:141974813:C:C 228443/228444, NC_000005.9:141974813:C:G 1/228444)
Row 4452573 (NC_000005.9:141974813:C:C 227231/228444, NC_000005.9:141974813:C:T 1213/228444)

- Jul 13, 2019 (153)
47 GO Exome Sequencing Project NC_000005.9 - 141974814 Oct 12, 2018 (152)
48 Genome of the Netherlands Release 5 NC_000005.9 - 141974814 Apr 26, 2020 (154)
49 KOREAN population from KRGDB NC_000005.9 - 141974814 Apr 26, 2020 (154)
50 Medical Genome Project healthy controls from Spanish population NC_000005.9 - 141974814 Apr 26, 2020 (154)
51 Northern Sweden NC_000005.9 - 141974814 Jul 13, 2019 (153)
52 Qatari NC_000005.9 - 141974814 Apr 26, 2020 (154)
53 SGDP_PRJ NC_000005.9 - 141974814 Apr 26, 2020 (154)
54 TopMed NC_000005.10 - 142595249 Apr 26, 2021 (155)
55 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 16247606 (NC_000005.9:141974813:C:C 3686/3708, NC_000005.9:141974813:C:T 22/3708)
Row 16247607 (NC_000005.9:141974813:C:C 3707/3708, NC_000005.9:141974813:C:A 1/3708)

- Oct 12, 2018 (152)
56 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 16247606 (NC_000005.9:141974813:C:C 3686/3708, NC_000005.9:141974813:C:T 22/3708)
Row 16247607 (NC_000005.9:141974813:C:C 3707/3708, NC_000005.9:141974813:C:A 1/3708)

- Oct 12, 2018 (152)
57 A Vietnamese Genetic Variation Database NC_000005.9 - 141974814 Jul 13, 2019 (153)
58 ALFA NC_000005.10 - 142595249 Apr 26, 2021 (155)
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
ss1614172411, ss1657166444 NC_000005.9:141974813:C:A NC_000005.10:142595248:C:A (self)
ss1688017495 NC_000005.9:141974813:C:G NC_000005.10:142595248:C:G (self)
ss491875090, ss1591729921 NC_000005.8:141954997:C:T NC_000005.10:142595248:C:T (self)
29206436, 11567850, 583117, 7216822, 16970510, 216605, 6164634, 7496564, 15145337, 3600178, ss488817332, ss712671694, ss982200163, ss1317517161, ss1614172410, ss1657166443, ss1711100845, ss1925454634, ss2747479643, ss2831647716, ss2997913350, ss3665829602, ss3732879769, ss3824125022, ss3863128357, ss3909793116, ss3984318743, ss3984318744, ss5361448062, ss5639028507, ss5835744634, ss5967503506 NC_000005.9:141974813:C:T NC_000005.10:142595248:C:T (self)
38417249, 206612278, 518751617, 6953549251, ss2278787719, ss3715846615, ss3807322301, ss4681374060, ss5266106954, ss5464045596, ss5550891314, ss5896627098 NC_000005.10:142595248:C:T NC_000005.10:142595248:C:T (self)
ss99307948 NT_029289.11:3137740:C:T NC_000005.10:142595248:C:T (self)
Help

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

No publications for rs71640256

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