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dbSNP Short Genetic Variations

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.

rs10801578

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:196905226 (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 / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.007360 (1948/264690, TOPMED)
G=0.001633 (404/247460, GnomAD_exome)
G=0.007189 (1002/139384, GnomAD) (+ 18 more)
G=0.001956 (237/121138, ExAC)
G=0.00000 (0/28248, 14KJPN)
G=0.00269 (75/27868, ALFA)
G=0.00000 (0/16754, 8.3KJPN)
G=0.0055 (35/6404, 1000G_30x)
G=0.0056 (28/5008, 1000G)
G=0.0003 (1/3854, ALSPAC)
G=0.0000 (0/3708, TWINSUK)
G=0.0000 (0/2930, KOREAN)
A=0.0000 (0/2930, KOREAN)
C=0.0000 (0/2930, KOREAN)
G=0.0000 (0/1830, Korea1K)
G=0.000 (0/600, NorthernSweden)
G=0.002 (1/558, SGDP_PRJ)
G=0.062 (33/534, MGP)
G=0.000 (0/216, Qatari)
G=0.00 (0/40, GENOME_DK)
G=0.00 (0/26, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CFHR4 : Missense 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 27868 G=0.00269 T=0.99731
European Sub 20340 G=0.00005 T=0.99995
African Sub 3540 G=0.0189 T=0.9811
African Others Sub 122 G=0.008 T=0.992
African American Sub 3418 G=0.0193 T=0.9807
Asian Sub 168 G=0.000 T=1.000
East Asian Sub 112 G=0.000 T=1.000
Other Asian Sub 56 G=0.00 T=1.00
Latin American 1 Sub 146 G=0.000 T=1.000
Latin American 2 Sub 610 G=0.000 T=1.000
South Asian Sub 98 G=0.00 T=1.00
Other Sub 2966 G=0.0024 T=0.9976


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=0.007360 T=0.992640
gnomAD - Exomes Global Study-wide 247460 G=0.001633 T=0.998367
gnomAD - Exomes European Sub 132256 G=0.000038 T=0.999962
gnomAD - Exomes Asian Sub 48746 G=0.00000 T=1.00000
gnomAD - Exomes American Sub 34404 G=0.00131 T=0.99869
gnomAD - Exomes African Sub 15926 G=0.02173 T=0.97827
gnomAD - Exomes Ashkenazi Jewish Sub 10058 G=0.00000 T=1.00000
gnomAD - Exomes Other Sub 6070 G=0.0013 T=0.9987
gnomAD - Genomes Global Study-wide 139384 G=0.007189 T=0.992811
gnomAD - Genomes European Sub 75726 G=0.00025 T=0.99975
gnomAD - Genomes African Sub 41518 G=0.02242 T=0.97758
gnomAD - Genomes American Sub 13538 G=0.00310 T=0.99690
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.0000 T=1.0000
gnomAD - Genomes East Asian Sub 3134 G=0.0000 T=1.0000
gnomAD - Genomes Other Sub 2144 G=0.0047 T=0.9953
ExAC Global Study-wide 121138 G=0.001956 T=0.998044
ExAC Europe Sub 73310 G=0.00004 T=0.99996
ExAC Asian Sub 25150 G=0.00000 T=1.00000
ExAC American Sub 11560 G=0.00121 T=0.99879
ExAC African Sub 10212 G=0.02145 T=0.97855
ExAC Other Sub 906 G=0.001 T=0.999
14KJPN JAPANESE Study-wide 28248 G=0.00000 T=1.00000
Allele Frequency Aggregator Total Global 27868 G=0.00269 T=0.99731
Allele Frequency Aggregator European Sub 20340 G=0.00005 T=0.99995
Allele Frequency Aggregator African Sub 3540 G=0.0189 T=0.9811
Allele Frequency Aggregator Other Sub 2966 G=0.0024 T=0.9976
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.000 T=1.000
Allele Frequency Aggregator Asian Sub 168 G=0.000 T=1.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.000 T=1.000
Allele Frequency Aggregator South Asian Sub 98 G=0.00 T=1.00
8.3KJPN JAPANESE Study-wide 16754 G=0.00000 T=1.00000
1000Genomes_30x Global Study-wide 6404 G=0.0055 T=0.9945
1000Genomes_30x African Sub 1786 G=0.0190 T=0.9810
1000Genomes_30x Europe Sub 1266 G=0.0000 T=1.0000
1000Genomes_30x South Asian Sub 1202 G=0.0000 T=1.0000
1000Genomes_30x East Asian Sub 1170 G=0.0000 T=1.0000
1000Genomes_30x American Sub 980 G=0.001 T=0.999
1000Genomes Global Study-wide 5008 G=0.0056 T=0.9944
1000Genomes African Sub 1322 G=0.0204 T=0.9796
1000Genomes East Asian Sub 1008 G=0.0000 T=1.0000
1000Genomes Europe Sub 1006 G=0.0000 T=1.0000
1000Genomes South Asian Sub 978 G=0.000 T=1.000
1000Genomes American Sub 694 G=0.001 T=0.999
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.0003 T=0.9997
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.0000 T=1.0000
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.0000 A=0.0000, C=0.0000, T=1.0000
Korean Genome Project KOREAN Study-wide 1830 G=0.0000 T=1.0000
Northern Sweden ACPOP Study-wide 600 G=0.000 T=1.000
SGDP_PRJ Global Study-wide 558 G=0.002 T=0.998
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.062 T=0.938
Qatari Global Study-wide 216 G=0.000 T=1.000
The Danish reference pan genome Danish Study-wide 40 G=0.00 T=1.00
Siberian Global Study-wide 26 G=0.00 T=1.00
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 1 NC_000001.11:g.196905226G>A
GRCh38.p14 chr 1 NC_000001.11:g.196905226G>C
GRCh38.p14 chr 1 NC_000001.11:g.196905226G>T
GRCh37.p13 chr 1 NC_000001.10:g.196874356G>A
GRCh37.p13 chr 1 NC_000001.10:g.196874356G>C
GRCh37.p13 chr 1 NC_000001.10:g.196874356G>T
CFHR4 RefSeqGene (LRG_1224) NG_028159.1:g.22213G>A
CFHR4 RefSeqGene (LRG_1224) NG_028159.1:g.22213G>C
CFHR4 RefSeqGene (LRG_1224) NG_028159.1:g.22213G>T
GRCh38.p14 chr 1 novel patch HSCHR1_5_CTG31 NW_025791754.1:g.670326T>G
GRCh38.p14 chr 1 novel patch HSCHR1_5_CTG31 NW_025791754.1:g.670326T>A
GRCh38.p14 chr 1 novel patch HSCHR1_5_CTG31 NW_025791754.1:g.670326T>C
Gene: CFHR4, complement factor H related 4 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CFHR4 transcript variant 3 NM_006684.5:c.256+2611G>A N/A Intron Variant
CFHR4 transcript variant 1 NM_001201550.3:c.375G>A E [GAG] > E [GAA] Coding Sequence Variant
complement factor H-related protein 4 isoform 1 precursor NP_001188479.1:p.Glu125= E (Glu) > E (Glu) Synonymous Variant
CFHR4 transcript variant 1 NM_001201550.3:c.375G>C E [GAG] > D [GAC] Coding Sequence Variant
complement factor H-related protein 4 isoform 1 precursor NP_001188479.1:p.Glu125Asp E (Glu) > D (Asp) Missense Variant
CFHR4 transcript variant 1 NM_001201550.3:c.375G>T E [GAG] > D [GAT] Coding Sequence Variant
complement factor H-related protein 4 isoform 1 precursor NP_001188479.1:p.Glu125Asp E (Glu) > D (Asp) Missense Variant
CFHR4 transcript variant 2 NM_001201551.2:c.372G>A E [GAG] > E [GAA] Coding Sequence Variant
complement factor H-related protein 4 isoform 2 precursor NP_001188480.1:p.Glu124= E (Glu) > E (Glu) Synonymous Variant
CFHR4 transcript variant 2 NM_001201551.2:c.372G>C E [GAG] > D [GAC] Coding Sequence Variant
complement factor H-related protein 4 isoform 2 precursor NP_001188480.1:p.Glu124Asp E (Glu) > D (Asp) Missense Variant
CFHR4 transcript variant 2 NM_001201551.2:c.372G>T E [GAG] > D [GAT] Coding Sequence Variant
complement factor H-related protein 4 isoform 2 precursor NP_001188480.1:p.Glu124Asp E (Glu) > D (Asp) Missense Variant
CFHR4 transcript variant X6 XM_047440683.1:c. N/A Genic Upstream Transcript Variant
CFHR4 transcript variant X1 XM_047440639.1:c.351G>A E [GAG] > E [GAA] Coding Sequence Variant
complement factor H-related protein 4 isoform X1 XP_047296595.1:p.Glu117= E (Glu) > E (Glu) Synonymous Variant
CFHR4 transcript variant X1 XM_047440639.1:c.351G>C E [GAG] > D [GAC] Coding Sequence Variant
complement factor H-related protein 4 isoform X1 XP_047296595.1:p.Glu117Asp E (Glu) > D (Asp) Missense Variant
CFHR4 transcript variant X1 XM_047440639.1:c.351G>T E [GAG] > D [GAT] Coding Sequence Variant
complement factor H-related protein 4 isoform X1 XP_047296595.1:p.Glu117Asp E (Glu) > D (Asp) Missense Variant
CFHR4 transcript variant X2 XM_047440640.1:c.375G>A E [GAG] > E [GAA] Coding Sequence Variant
complement factor H-related protein 4 isoform X2 XP_047296596.1:p.Glu125= E (Glu) > E (Glu) Synonymous Variant
CFHR4 transcript variant X2 XM_047440640.1:c.375G>C E [GAG] > D [GAC] Coding Sequence Variant
complement factor H-related protein 4 isoform X2 XP_047296596.1:p.Glu125Asp E (Glu) > D (Asp) Missense Variant
CFHR4 transcript variant X2 XM_047440640.1:c.375G>T E [GAG] > D [GAT] Coding Sequence Variant
complement factor H-related protein 4 isoform X2 XP_047296596.1:p.Glu125Asp E (Glu) > D (Asp) Missense Variant
CFHR4 transcript variant X3 XM_017000111.2:c.375G>A E [GAG] > E [GAA] Coding Sequence Variant
complement factor H-related protein 4 isoform X3 XP_016855600.1:p.Glu125= E (Glu) > E (Glu) Synonymous Variant
CFHR4 transcript variant X3 XM_017000111.2:c.375G>C E [GAG] > D [GAC] Coding Sequence Variant
complement factor H-related protein 4 isoform X3 XP_016855600.1:p.Glu125Asp E (Glu) > D (Asp) Missense Variant
CFHR4 transcript variant X3 XM_017000111.2:c.375G>T E [GAG] > D [GAT] Coding Sequence Variant
complement factor H-related protein 4 isoform X3 XP_016855600.1:p.Glu125Asp E (Glu) > D (Asp) Missense Variant
CFHR4 transcript variant X4 XM_047440659.1:c.375G>A E [GAG] > E [GAA] Coding Sequence Variant
complement factor H-related protein 4 isoform X4 XP_047296615.1:p.Glu125= E (Glu) > E (Glu) Synonymous Variant
CFHR4 transcript variant X4 XM_047440659.1:c.375G>C E [GAG] > D [GAC] Coding Sequence Variant
complement factor H-related protein 4 isoform X4 XP_047296615.1:p.Glu125Asp E (Glu) > D (Asp) Missense Variant
CFHR4 transcript variant X4 XM_047440659.1:c.375G>T E [GAG] > D [GAT] Coding Sequence Variant
complement factor H-related protein 4 isoform X4 XP_047296615.1:p.Glu125Asp E (Glu) > D (Asp) Missense Variant
CFHR4 transcript variant X5 XM_017000113.2:c.375G>A E [GAG] > E [GAA] Coding Sequence Variant
complement factor H-related protein 4 isoform X5 XP_016855602.1:p.Glu125= E (Glu) > E (Glu) Synonymous Variant
CFHR4 transcript variant X5 XM_017000113.2:c.375G>C E [GAG] > D [GAC] Coding Sequence Variant
complement factor H-related protein 4 isoform X5 XP_016855602.1:p.Glu125Asp E (Glu) > D (Asp) Missense Variant
CFHR4 transcript variant X5 XM_017000113.2:c.375G>T E [GAG] > D [GAT] Coding Sequence Variant
complement factor H-related protein 4 isoform X5 XP_016855602.1:p.Glu125Asp E (Glu) > D (Asp) Missense 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: T (allele ID: 1223298 )
ClinVar Accession Disease Names Clinical Significance
RCV001621232.3 not provided Benign
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 C T
GRCh38.p14 chr 1 NC_000001.11:g.196905226= NC_000001.11:g.196905226G>A NC_000001.11:g.196905226G>C NC_000001.11:g.196905226G>T
GRCh37.p13 chr 1 NC_000001.10:g.196874356= NC_000001.10:g.196874356G>A NC_000001.10:g.196874356G>C NC_000001.10:g.196874356G>T
CFHR4 RefSeqGene (LRG_1224) NG_028159.1:g.22213= NG_028159.1:g.22213G>A NG_028159.1:g.22213G>C NG_028159.1:g.22213G>T
CFHR4 transcript variant 1 NM_001201550.3:c.375= NM_001201550.3:c.375G>A NM_001201550.3:c.375G>C NM_001201550.3:c.375G>T
CFHR4 transcript variant 1 NM_001201550.2:c.375= NM_001201550.2:c.375G>A NM_001201550.2:c.375G>C NM_001201550.2:c.375G>T
CFHR4 transcript variant 2 NM_001201551.2:c.372= NM_001201551.2:c.372G>A NM_001201551.2:c.372G>C NM_001201551.2:c.372G>T
CFHR4 transcript variant 2 NM_001201551.1:c.372= NM_001201551.1:c.372G>A NM_001201551.1:c.372G>C NM_001201551.1:c.372G>T
GRCh38.p14 chr 1 novel patch HSCHR1_5_CTG31 NW_025791754.1:g.670326T>G NW_025791754.1:g.670326T>A NW_025791754.1:g.670326T>C NW_025791754.1:g.670326=
CFHR4 transcript variant X3 XM_017000111.2:c.375= XM_017000111.2:c.375G>A XM_017000111.2:c.375G>C XM_017000111.2:c.375G>T
CFHR4 transcript variant X3 XM_017000111.1:c.375= XM_017000111.1:c.375G>A XM_017000111.1:c.375G>C XM_017000111.1:c.375G>T
CFHR4 transcript variant X5 XM_017000113.2:c.375= XM_017000113.2:c.375G>A XM_017000113.2:c.375G>C XM_017000113.2:c.375G>T
CFHR4 transcript variant X5 XM_017000113.1:c.375= XM_017000113.1:c.375G>A XM_017000113.1:c.375G>C XM_017000113.1:c.375G>T
CFHR4 transcript variant X2 XM_047440640.1:c.375= XM_047440640.1:c.375G>A XM_047440640.1:c.375G>C XM_047440640.1:c.375G>T
CFHR4 transcript variant X1 XM_047440639.1:c.351= XM_047440639.1:c.351G>A XM_047440639.1:c.351G>C XM_047440639.1:c.351G>T
CFHR4 transcript variant X4 XM_047440659.1:c.375= XM_047440659.1:c.375G>A XM_047440659.1:c.375G>C XM_047440659.1:c.375G>T
complement factor H-related protein 4 isoform 1 precursor NP_001188479.1:p.Glu125= NP_001188479.1:p.Glu125= NP_001188479.1:p.Glu125Asp NP_001188479.1:p.Glu125Asp
complement factor H-related protein 4 isoform 2 precursor NP_001188480.1:p.Glu124= NP_001188480.1:p.Glu124= NP_001188480.1:p.Glu124Asp NP_001188480.1:p.Glu124Asp
complement factor H-related protein 4 isoform X3 XP_016855600.1:p.Glu125= XP_016855600.1:p.Glu125= XP_016855600.1:p.Glu125Asp XP_016855600.1:p.Glu125Asp
complement factor H-related protein 4 isoform X5 XP_016855602.1:p.Glu125= XP_016855602.1:p.Glu125= XP_016855602.1:p.Glu125Asp XP_016855602.1:p.Glu125Asp
complement factor H-related protein 4 isoform X2 XP_047296596.1:p.Glu125= XP_047296596.1:p.Glu125= XP_047296596.1:p.Glu125Asp XP_047296596.1:p.Glu125Asp
complement factor H-related protein 4 isoform X1 XP_047296595.1:p.Glu117= XP_047296595.1:p.Glu117= XP_047296595.1:p.Glu117Asp XP_047296595.1:p.Glu117Asp
complement factor H-related protein 4 isoform X4 XP_047296615.1:p.Glu125= XP_047296615.1:p.Glu125= XP_047296615.1:p.Glu125Asp XP_047296615.1:p.Glu125Asp
CFHR4 transcript variant 3 NM_006684.4:c.256+2611= NM_006684.4:c.256+2611G>A NM_006684.4:c.256+2611G>C NM_006684.4:c.256+2611G>T
CFHR4 transcript variant 3 NM_006684.5:c.256+2611= NM_006684.5:c.256+2611G>A NM_006684.5:c.256+2611G>C NM_006684.5:c.256+2611G>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#.

85 SubSNP, 19 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss18186090 Feb 27, 2004 (120)
2 SC_SNP ss18278832 Feb 27, 2004 (120)
3 CSHL-HAPMAP ss19133388 Feb 27, 2004 (120)
4 SSAHASNP ss20534286 Apr 05, 2004 (121)
5 BCMHGSC_JDW ss87926394 Mar 23, 2008 (129)
6 HUMANGENOME_JCVI ss97995794 Feb 04, 2009 (130)
7 ILLUMINA-UK ss119164772 Feb 15, 2009 (130)
8 ENSEMBL ss138131923 Dec 01, 2009 (131)
9 ENSEMBL ss139108949 Dec 01, 2009 (131)
10 GMI ss156122247 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss164845956 Jul 04, 2010 (132)
12 COMPLETE_GENOMICS ss165648548 Jul 04, 2010 (132)
13 COMPLETE_GENOMICS ss167410183 Jul 04, 2010 (132)
14 BUSHMAN ss199448159 Jul 04, 2010 (132)
15 BCM-HGSC-SUB ss205372279 Jul 04, 2010 (132)
16 BL ss253728715 May 09, 2011 (134)
17 GMI ss276164207 May 04, 2012 (137)
18 GMI ss284204808 Apr 25, 2013 (138)
19 PJP ss290707024 May 09, 2011 (134)
20 1000GENOMES ss329135918 May 09, 2011 (134)
21 CLINSEQ_SNP ss491611833 May 04, 2012 (137)
22 TISHKOFF ss555017380 Apr 25, 2013 (138)
23 SSMP ss648608220 Apr 25, 2013 (138)
24 JMKIDD_LAB ss1068497309 Aug 21, 2014 (142)
25 1000GENOMES ss1294104407 Aug 21, 2014 (142)
26 DDI ss1426071061 Apr 01, 2015 (144)
27 EVA_GENOME_DK ss1574590311 Apr 01, 2015 (144)
28 EVA_UK10K_ALSPAC ss1601843114 Apr 01, 2015 (144)
29 EVA_UK10K_TWINSUK ss1644837147 Apr 01, 2015 (144)
30 EVA_EXAC ss1685970926 Apr 01, 2015 (144)
31 EVA_MGP ss1710937169 Apr 01, 2015 (144)
32 HAMMER_LAB ss1795529147 Sep 08, 2015 (146)
33 WEILL_CORNELL_DGM ss1919228721 Feb 12, 2016 (147)
34 GENOMED ss1966939277 Jul 19, 2016 (147)
35 JJLAB ss2020132925 Sep 14, 2016 (149)
36 USC_VALOUEV ss2148159841 Dec 20, 2016 (150)
37 HUMAN_LONGEVITY ss2168976949 Dec 20, 2016 (150)
38 SYSTEMSBIOZJU ss2624574280 Nov 08, 2017 (151)
39 GRF ss2698148509 Nov 08, 2017 (151)
40 GNOMAD ss2732145869 Nov 08, 2017 (151)
41 GNOMAD ss2746523845 Nov 08, 2017 (151)
42 GNOMAD ss2764672400 Nov 08, 2017 (151)
43 SWEGEN ss2988225483 Nov 08, 2017 (151)
44 CSHL ss3343848479 Nov 08, 2017 (151)
45 OMUKHERJEE_ADBS ss3646250491 Oct 11, 2018 (152)
46 URBANLAB ss3646857317 Oct 11, 2018 (152)
47 EVA_DECODE ss3688357776 Jul 12, 2019 (153)
48 ACPOP ss3727741495 Jul 12, 2019 (153)
49 EVA ss3747166794 Jul 12, 2019 (153)
50 PACBIO ss3783650805 Jul 12, 2019 (153)
51 PACBIO ss3789269050 Jul 12, 2019 (153)
52 PACBIO ss3794141225 Jul 12, 2019 (153)
53 KHV_HUMAN_GENOMES ss3800173904 Jul 12, 2019 (153)
54 EVA ss3825583627 Apr 25, 2020 (154)
55 EVA ss3826574662 Apr 25, 2020 (154)
56 EVA ss3836686254 Apr 25, 2020 (154)
57 EVA ss3842097174 Apr 25, 2020 (154)
58 SGDP_PRJ ss3850616482 Apr 25, 2020 (154)
59 KRGDB ss3895895113 Apr 25, 2020 (154)
60 KOGIC ss3946217860 Apr 25, 2020 (154)
61 FSA-LAB ss3983957423 Apr 25, 2021 (155)
62 EVA ss3986152062 Apr 25, 2021 (155)
63 TOPMED ss4478771910 Apr 25, 2021 (155)
64 TOMMO_GENOMICS ss5147811441 Apr 25, 2021 (155)
65 EVA ss5236876841 Apr 25, 2021 (155)
66 EVA ss5237165569 Apr 25, 2021 (155)
67 EVA ss5237633786 Oct 13, 2022 (156)
68 1000G_HIGH_COVERAGE ss5245317781 Oct 13, 2022 (156)
69 EVA ss5323918747 Oct 13, 2022 (156)
70 1000G_HIGH_COVERAGE ss5519179807 Oct 13, 2022 (156)
71 EVA ss5623917706 Oct 13, 2022 (156)
72 EVA ss5624001145 Oct 13, 2022 (156)
73 SANFORD_IMAGENETICS ss5627178176 Oct 13, 2022 (156)
74 TOMMO_GENOMICS ss5675389300 Oct 13, 2022 (156)
75 EVA ss5800047464 Oct 13, 2022 (156)
76 EVA ss5800088447 Oct 13, 2022 (156)
77 YY_MCH ss5801518312 Oct 13, 2022 (156)
78 EVA ss5833069311 Oct 13, 2022 (156)
79 EVA ss5848281172 Oct 13, 2022 (156)
80 EVA ss5849227152 Oct 13, 2022 (156)
81 EVA ss5911423669 Oct 13, 2022 (156)
82 EVA ss5936513341 Oct 13, 2022 (156)
83 EVA ss5939001953 Oct 13, 2022 (156)
84 EVA ss5980005878 Oct 13, 2022 (156)
85 EVA ss5981199580 Oct 13, 2022 (156)
86 1000Genomes NC_000001.10 - 196874356 Oct 11, 2018 (152)
87 1000Genomes_30x NC_000001.11 - 196905226 Oct 13, 2022 (156)
88 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 196874356 Oct 11, 2018 (152)
89 ExAC NC_000001.10 - 196874356 Oct 11, 2018 (152)
90 The Danish reference pan genome NC_000001.10 - 196874356 Apr 25, 2020 (154)
91 gnomAD - Genomes NC_000001.11 - 196905226 Apr 25, 2021 (155)
92 gnomAD - Exomes NC_000001.10 - 196874356 Jul 12, 2019 (153)
93 KOREAN population from KRGDB NC_000001.10 - 196874356 Apr 25, 2020 (154)
94 Korean Genome Project NC_000001.11 - 196905226 Apr 25, 2020 (154)
95 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 196874356 Apr 25, 2020 (154)
96 Northern Sweden NC_000001.10 - 196874356 Jul 12, 2019 (153)
97 Qatari NC_000001.10 - 196874356 Apr 25, 2020 (154)
98 SGDP_PRJ NC_000001.10 - 196874356 Apr 25, 2020 (154)
99 Siberian NC_000001.10 - 196874356 Apr 25, 2020 (154)
100 8.3KJPN NC_000001.10 - 196874356 Apr 25, 2021 (155)
101 14KJPN NC_000001.11 - 196905226 Oct 13, 2022 (156)
102 TopMed NC_000001.11 - 196905226 Apr 25, 2021 (155)
103 UK 10K study - Twins NC_000001.10 - 196874356 Oct 11, 2018 (152)
104 ALFA NC_000001.11 - 196905226 Apr 25, 2021 (155)
105 ClinVar RCV001621232.3 Oct 13, 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
3072507, ss3895895113 NC_000001.10:196874355:G:A NC_000001.11:196905225:G:A (self)
3072507, ss3895895113 NC_000001.10:196874355:G:C NC_000001.11:196905225:G:C (self)
ss87926394, ss119164772, ss164845956, ss165648548, ss167410183, ss199448159, ss205372279, ss253728715, ss276164207, ss284204808, ss290707024, ss491611833 NC_000001.9:195140978:G:T NC_000001.11:196905225:G:T (self)
4939208, 2712068, 5201587, 1829682, 1177644, 3072507, 53921, 1026360, 1270651, 2633462, 676195, 5780748, 2712068, ss329135918, ss555017380, ss648608220, ss1068497309, ss1294104407, ss1426071061, ss1574590311, ss1601843114, ss1644837147, ss1685970926, ss1710937169, ss1795529147, ss1919228721, ss1966939277, ss2020132925, ss2148159841, ss2624574280, ss2698148509, ss2732145869, ss2746523845, ss2764672400, ss2988225483, ss3343848479, ss3646250491, ss3727741495, ss3747166794, ss3783650805, ss3789269050, ss3794141225, ss3825583627, ss3826574662, ss3836686254, ss3850616482, ss3895895113, ss3983957423, ss3986152062, ss5147811441, ss5323918747, ss5623917706, ss5624001145, ss5627178176, ss5800047464, ss5800088447, ss5833069311, ss5848281172, ss5936513341, ss5939001953, ss5980005878, ss5981199580 NC_000001.10:196874355:G:T NC_000001.11:196905225:G:T (self)
RCV001621232.3, 6705742, 35625633, 2595861, 9226404, 42378245, 13182375212, ss2168976949, ss3646857317, ss3688357776, ss3800173904, ss3842097174, ss3946217860, ss4478771910, ss5236876841, ss5237165569, ss5237633786, ss5245317781, ss5519179807, ss5675389300, ss5801518312, ss5849227152, ss5911423669 NC_000001.11:196905225:G:T NC_000001.11:196905225:G:T (self)
ss97995794, ss138131923, ss139108949, ss156122247 NT_004487.19:48362997:G:T NC_000001.11:196905225:G:T (self)
ss18186090, ss18278832, ss19133388, ss20534286 NT_004671.15:8229341:G:T NC_000001.11:196905225:G: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 rs10801578

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