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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.

rs149741186

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:966543 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.011984 (3172/264690, TOPMED)
A=0.003001 (737/245552, GnomAD_exome)
A=0.011335 (1590/140272, GnomAD) (+ 10 more)
A=0.003711 (413/111304, ExAC)
A=0.00077 (66/86042, ALFA)
A=0.01088 (141/12960, GO-ESP)
A=0.0109 (70/6404, 1000G_30x)
A=0.0106 (53/5008, 1000G)
A=0.0008 (3/3854, ALSPAC)
A=0.0003 (1/3708, TWINSUK)
A=0.005 (1/216, Qatari)
C=0.5 (2/4, SGDP_PRJ)
A=0.5 (2/4, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PLEKHN1 : 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 102400 C=0.997607 A=0.002393, G=0.000000 0.995293 7.8e-05 0.004629 25
European Sub 81696 C=0.99976 A=0.00024, G=0.00000 0.99951 0.0 0.00049 0
African Sub 8364 C=0.9766 A=0.0234, G=0.0000 0.954089 0.000956 0.044955 1
African Others Sub 304 C=0.967 A=0.033, G=0.000 0.947368 0.013158 0.039474 12
African American Sub 8060 C=0.9769 A=0.0231, G=0.0000 0.954342 0.000496 0.045161 0
Asian Sub 194 C=1.000 A=0.000, G=0.000 1.0 0.0 0.0 N/A
East Asian Sub 112 C=1.000 A=0.000, G=0.000 1.0 0.0 0.0 N/A
Other Asian Sub 82 C=1.00 A=0.00, G=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 498 C=0.992 A=0.008, G=0.000 0.983936 0.0 0.016064 0
Latin American 2 Sub 646 C=1.000 A=0.000, G=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 A=0.00, G=0.00 1.0 0.0 0.0 N/A
Other Sub 10904 C=0.99771 A=0.00229, G=0.00000 0.995415 0.0 0.004585 0


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=0.988016 A=0.011984
gnomAD - Exomes Global Study-wide 245552 C=0.996999 A=0.003001
gnomAD - Exomes European Sub 131068 C=0.999588 A=0.000412
gnomAD - Exomes Asian Sub 48704 C=0.99994 A=0.00006
gnomAD - Exomes American Sub 34332 C=0.99677 A=0.00323
gnomAD - Exomes African Sub 15614 C=0.96420 A=0.03580
gnomAD - Exomes Ashkenazi Jewish Sub 9834 C=0.9999 A=0.0001
gnomAD - Exomes Other Sub 6000 C=0.9985 A=0.0015
gnomAD - Genomes Global Study-wide 140272 C=0.988665 A=0.011335
gnomAD - Genomes European Sub 75946 C=0.99960 A=0.00040
gnomAD - Genomes African Sub 42048 C=0.96492 A=0.03508
gnomAD - Genomes American Sub 13666 C=0.99495 A=0.00505
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3134 C=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2154 C=0.9926 A=0.0074
ExAC Global Study-wide 111304 C=0.996289 A=0.003711
ExAC Europe Sub 66636 C=0.99955 A=0.00045
ExAC Asian Sub 23896 C=0.99992 A=0.00008
ExAC American Sub 10984 C=0.99618 A=0.00382
ExAC African Sub 9008 C=0.9625 A=0.0375
ExAC Other Sub 780 C=0.999 A=0.001
Allele Frequency Aggregator Total Global 86042 C=0.99923 A=0.00077, G=0.00000
Allele Frequency Aggregator European Sub 71606 C=0.99979 A=0.00021, G=0.00000
Allele Frequency Aggregator Other Sub 9472 C=0.9985 A=0.0015, G=0.0000
Allele Frequency Aggregator African Sub 3528 C=0.9906 A=0.0094, G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 646 C=1.000 A=0.000, G=0.000
Allele Frequency Aggregator Latin American 1 Sub 498 C=0.992 A=0.008, G=0.000
Allele Frequency Aggregator Asian Sub 194 C=1.000 A=0.000, G=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 A=0.00, G=0.00
GO Exome Sequencing Project Global Study-wide 12960 C=0.98912 A=0.01088
GO Exome Sequencing Project European American Sub 8580 C=0.9995 A=0.0005
GO Exome Sequencing Project African American Sub 4380 C=0.9687 A=0.0313
1000Genomes_30x Global Study-wide 6404 C=0.9891 A=0.0109
1000Genomes_30x African Sub 1786 C=0.9619 A=0.0381
1000Genomes_30x Europe Sub 1266 C=1.0000 A=0.0000
1000Genomes_30x South Asian Sub 1202 C=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 C=1.0000 A=0.0000
1000Genomes_30x American Sub 980 C=0.998 A=0.002
1000Genomes Global Study-wide 5008 C=0.9894 A=0.0106
1000Genomes African Sub 1322 C=0.9607 A=0.0393
1000Genomes East Asian Sub 1008 C=1.0000 A=0.0000
1000Genomes Europe Sub 1006 C=1.0000 A=0.0000
1000Genomes South Asian Sub 978 C=1.000 A=0.000
1000Genomes American Sub 694 C=0.999 A=0.001
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9992 A=0.0008
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9997 A=0.0003
Qatari Global Study-wide 216 C=0.995 A=0.005
SGDP_PRJ Global Study-wide 4 C=0.5 A=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 1 NC_000001.11:g.966543C>A
GRCh38.p14 chr 1 NC_000001.11:g.966543C>G
GRCh37.p13 chr 1 NC_000001.10:g.901923C>A
GRCh37.p13 chr 1 NC_000001.10:g.901923C>G
KLHL17 RefSeqGene NG_027546.1:g.10957C>A
KLHL17 RefSeqGene NG_027546.1:g.10957C>G
Gene: PLEKHN1, pleckstrin homology domain containing N1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PLEKHN1 transcript variant 1 NM_032129.3:c.12C>A S [AGC] > R [AGA] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform a NP_115505.2:p.Ser4Arg S (Ser) > R (Arg) Missense Variant
PLEKHN1 transcript variant 1 NM_032129.3:c.12C>G S [AGC] > R [AGG] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform a NP_115505.2:p.Ser4Arg S (Ser) > R (Arg) Missense Variant
PLEKHN1 transcript variant 2 NM_001160184.2:c.12C>A S [AGC] > R [AGA] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform b NP_001153656.1:p.Ser4Arg S (Ser) > R (Arg) Missense Variant
PLEKHN1 transcript variant 2 NM_001160184.2:c.12C>G S [AGC] > R [AGG] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform b NP_001153656.1:p.Ser4Arg S (Ser) > R (Arg) Missense Variant
PLEKHN1 transcript variant 3 NM_001367552.1:c.12C>A S [AGC] > R [AGA] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform c NP_001354481.1:p.Ser4Arg S (Ser) > R (Arg) Missense Variant
PLEKHN1 transcript variant 3 NM_001367552.1:c.12C>G S [AGC] > R [AGG] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform c NP_001354481.1:p.Ser4Arg S (Ser) > R (Arg) Missense Variant
PLEKHN1 transcript variant X1 XM_011542248.3:c.12C>A S [AGC] > R [AGA] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X1 XP_011540550.3:p.Ser4Arg S (Ser) > R (Arg) Missense Variant
PLEKHN1 transcript variant X1 XM_011542248.3:c.12C>G S [AGC] > R [AGG] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X1 XP_011540550.3:p.Ser4Arg S (Ser) > R (Arg) Missense Variant
PLEKHN1 transcript variant X1 XM_017002475.2:c.12C>A S [AGC] > R [AGA] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X1 XP_016857964.2:p.Ser4Arg S (Ser) > R (Arg) Missense Variant
PLEKHN1 transcript variant X1 XM_017002475.2:c.12C>G S [AGC] > R [AGG] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X1 XP_016857964.2:p.Ser4Arg S (Ser) > R (Arg) Missense Variant
PLEKHN1 transcript variant X2 XM_047431794.1:c.12C>A S [AGC] > R [AGA] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X2 XP_047287750.1:p.Ser4Arg S (Ser) > R (Arg) Missense Variant
PLEKHN1 transcript variant X2 XM_047431794.1:c.12C>G S [AGC] > R [AGG] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X2 XP_047287750.1:p.Ser4Arg S (Ser) > R (Arg) Missense Variant
PLEKHN1 transcript variant X3 XM_017002474.2:c.12C>A S [AGC] > R [AGA] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X3 XP_016857963.2:p.Ser4Arg S (Ser) > R (Arg) Missense Variant
PLEKHN1 transcript variant X3 XM_017002474.2:c.12C>G S [AGC] > R [AGG] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X3 XP_016857963.2:p.Ser4Arg S (Ser) > R (Arg) Missense Variant
PLEKHN1 transcript variant X4 XM_047431795.1:c.12C>A S [AGC] > R [AGA] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X4 XP_047287751.1:p.Ser4Arg S (Ser) > R (Arg) Missense Variant
PLEKHN1 transcript variant X4 XM_047431795.1:c.12C>G S [AGC] > R [AGG] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X4 XP_047287751.1:p.Ser4Arg S (Ser) > R (Arg) Missense Variant
PLEKHN1 transcript variant X5 XM_017002478.3:c.12C>A S [AGC] > R [AGA] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X5 XP_016857967.2:p.Ser4Arg S (Ser) > R (Arg) Missense Variant
PLEKHN1 transcript variant X5 XM_017002478.3:c.12C>G S [AGC] > R [AGG] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X5 XP_016857967.2:p.Ser4Arg S (Ser) > R (Arg) Missense Variant
PLEKHN1 transcript variant X6 XM_017002479.2:c.12C>A S [AGC] > R [AGA] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X6 XP_016857968.2:p.Ser4Arg S (Ser) > R (Arg) Missense Variant
PLEKHN1 transcript variant X6 XM_017002479.2:c.12C>G S [AGC] > R [AGG] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X6 XP_016857968.2:p.Ser4Arg S (Ser) > R (Arg) 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: A (allele ID: 707606 )
ClinVar Accession Disease Names Clinical Significance
RCV000964279.3 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 C= A G
GRCh38.p14 chr 1 NC_000001.11:g.966543= NC_000001.11:g.966543C>A NC_000001.11:g.966543C>G
GRCh37.p13 chr 1 NC_000001.10:g.901923= NC_000001.10:g.901923C>A NC_000001.10:g.901923C>G
KLHL17 RefSeqGene NG_027546.1:g.10957= NG_027546.1:g.10957C>A NG_027546.1:g.10957C>G
PLEKHN1 transcript variant X1 XM_011542248.3:c.12= XM_011542248.3:c.12C>A XM_011542248.3:c.12C>G
PLEKHN1 transcript variant 1 NM_032129.3:c.12= NM_032129.3:c.12C>A NM_032129.3:c.12C>G
PLEKHN1 transcript variant 1 NM_032129.2:c.12= NM_032129.2:c.12C>A NM_032129.2:c.12C>G
PLEKHN1 transcript variant X5 XM_017002478.3:c.12= XM_017002478.3:c.12C>A XM_017002478.3:c.12C>G
PLEKHN1 transcript variant X8 XM_017002478.2:c.336= XM_017002478.2:c.336C>A XM_017002478.2:c.336C>G
PLEKHN1 transcript variant X8 XM_017002478.1:c.336= XM_017002478.1:c.336C>A XM_017002478.1:c.336C>G
PLEKHN1 transcript variant X1 XM_017002475.2:c.12= XM_017002475.2:c.12C>A XM_017002475.2:c.12C>G
PLEKHN1 transcript variant X4 XM_017002475.1:c.336= XM_017002475.1:c.336C>A XM_017002475.1:c.336C>G
PLEKHN1 transcript variant X3 XM_017002474.2:c.12= XM_017002474.2:c.12C>A XM_017002474.2:c.12C>G
PLEKHN1 transcript variant X3 XM_017002474.1:c.336= XM_017002474.1:c.336C>A XM_017002474.1:c.336C>G
PLEKHN1 transcript variant 2 NM_001160184.2:c.12= NM_001160184.2:c.12C>A NM_001160184.2:c.12C>G
PLEKHN1 transcript variant 2 NM_001160184.1:c.12= NM_001160184.1:c.12C>A NM_001160184.1:c.12C>G
PLEKHN1 transcript variant X6 XM_017002479.2:c.12= XM_017002479.2:c.12C>A XM_017002479.2:c.12C>G
PLEKHN1 transcript variant X9 XM_017002479.1:c.336= XM_017002479.1:c.336C>A XM_017002479.1:c.336C>G
PLEKHN1 transcript variant 4 NM_001410697.1:c.12= NM_001410697.1:c.12C>A NM_001410697.1:c.12C>G
PLEKHN1 transcript variant 3 NM_001367552.1:c.12= NM_001367552.1:c.12C>A NM_001367552.1:c.12C>G
PLEKHN1 transcript variant X2 XM_047431794.1:c.12= XM_047431794.1:c.12C>A XM_047431794.1:c.12C>G
PLEKHN1 transcript variant X4 XM_047431795.1:c.12= XM_047431795.1:c.12C>A XM_047431795.1:c.12C>G
pleckstrin homology domain-containing family N member 1 isoform X1 XP_011540550.3:p.Ser4= XP_011540550.3:p.Ser4Arg XP_011540550.3:p.Ser4Arg
pleckstrin homology domain-containing family N member 1 isoform a NP_115505.2:p.Ser4= NP_115505.2:p.Ser4Arg NP_115505.2:p.Ser4Arg
pleckstrin homology domain-containing family N member 1 isoform X5 XP_016857967.2:p.Ser4= XP_016857967.2:p.Ser4Arg XP_016857967.2:p.Ser4Arg
pleckstrin homology domain-containing family N member 1 isoform X1 XP_016857964.2:p.Ser4= XP_016857964.2:p.Ser4Arg XP_016857964.2:p.Ser4Arg
pleckstrin homology domain-containing family N member 1 isoform X3 XP_016857963.2:p.Ser4= XP_016857963.2:p.Ser4Arg XP_016857963.2:p.Ser4Arg
pleckstrin homology domain-containing family N member 1 isoform b NP_001153656.1:p.Ser4= NP_001153656.1:p.Ser4Arg NP_001153656.1:p.Ser4Arg
pleckstrin homology domain-containing family N member 1 isoform X6 XP_016857968.2:p.Ser4= XP_016857968.2:p.Ser4Arg XP_016857968.2:p.Ser4Arg
pleckstrin homology domain-containing family N member 1 isoform c NP_001354481.1:p.Ser4= NP_001354481.1:p.Ser4Arg NP_001354481.1:p.Ser4Arg
pleckstrin homology domain-containing family N member 1 isoform X2 XP_047287750.1:p.Ser4= XP_047287750.1:p.Ser4Arg XP_047287750.1:p.Ser4Arg
pleckstrin homology domain-containing family N member 1 isoform X4 XP_047287751.1:p.Ser4= XP_047287751.1:p.Ser4Arg XP_047287751.1:p.Ser4Arg
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#.

48 SubSNP, 12 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss328358821 May 09, 2011 (134)
2 NHLBI-ESP ss341923787 May 09, 2011 (134)
3 1000GENOMES ss489714215 May 04, 2012 (137)
4 EXOME_CHIP ss491283891 May 04, 2012 (137)
5 ROSENBERGLAB ss749601870 Aug 21, 2014 (142)
6 JMKIDD_LAB ss1067414317 Aug 21, 2014 (142)
7 1000GENOMES ss1289344404 Aug 21, 2014 (142)
8 EVA_DECODE ss1584130524 Apr 01, 2015 (144)
9 EVA_UK10K_ALSPAC ss1599380117 Apr 01, 2015 (144)
10 EVA_UK10K_TWINSUK ss1642374150 Apr 01, 2015 (144)
11 EVA_EXAC ss1685220659 Apr 01, 2015 (144)
12 ILLUMINA ss1751937884 Sep 08, 2015 (146)
13 ILLUMINA ss1917720858 Feb 12, 2016 (147)
14 WEILL_CORNELL_DGM ss1917962106 Feb 12, 2016 (147)
15 ILLUMINA ss1945981678 Feb 12, 2016 (147)
16 ILLUMINA ss1958230327 Feb 12, 2016 (147)
17 HUMAN_LONGEVITY ss2159374037 Dec 20, 2016 (150)
18 GNOMAD ss2730991531 Nov 08, 2017 (151)
19 GNOMAD ss2746171098 Nov 08, 2017 (151)
20 GNOMAD ss2750654555 Nov 08, 2017 (151)
21 AFFY ss2984841102 Nov 08, 2017 (151)
22 SWEGEN ss2986151772 Nov 08, 2017 (151)
23 ILLUMINA ss3021043331 Nov 08, 2017 (151)
24 ILLUMINA ss3634301913 Oct 11, 2018 (152)
25 ILLUMINA ss3640009279 Oct 11, 2018 (152)
26 ILLUMINA ss3644477547 Oct 11, 2018 (152)
27 ILLUMINA ss3651365384 Oct 11, 2018 (152)
28 ILLUMINA ss3653614857 Oct 11, 2018 (152)
29 ILLUMINA ss3744337285 Jul 12, 2019 (153)
30 ILLUMINA ss3744602845 Jul 12, 2019 (153)
31 ILLUMINA ss3772104608 Jul 12, 2019 (153)
32 KHV_HUMAN_GENOMES ss3798745161 Jul 12, 2019 (153)
33 EVA ss3823541999 Apr 25, 2020 (154)
34 EVA ss3825548969 Apr 25, 2020 (154)
35 SGDP_PRJ ss3847999369 Apr 25, 2020 (154)
36 FSA-LAB ss3983910399 Apr 25, 2021 (155)
37 EVA ss3986090779 Apr 25, 2021 (155)
38 TOPMED ss4436473494 Apr 25, 2021 (155)
39 EVA ss5236862301 Apr 25, 2021 (155)
40 1000G_HIGH_COVERAGE ss5240868111 Oct 12, 2022 (156)
41 EVA ss5316191277 Oct 12, 2022 (156)
42 HUGCELL_USP ss5442115725 Oct 12, 2022 (156)
43 1000G_HIGH_COVERAGE ss5512494671 Oct 12, 2022 (156)
44 SANFORD_IMAGENETICS ss5624752285 Oct 12, 2022 (156)
45 EVA ss5831420432 Oct 12, 2022 (156)
46 EVA ss5847521307 Oct 12, 2022 (156)
47 EVA ss5906709198 Oct 12, 2022 (156)
48 EVA ss5936584910 Oct 12, 2022 (156)
49 1000Genomes NC_000001.10 - 901923 Oct 11, 2018 (152)
50 1000Genomes_30x NC_000001.11 - 966543 Oct 12, 2022 (156)
51 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 901923 Oct 11, 2018 (152)
52 ExAC NC_000001.10 - 901923 Oct 11, 2018 (152)
53 gnomAD - Genomes NC_000001.11 - 966543 Apr 25, 2021 (155)
54 gnomAD - Exomes NC_000001.10 - 901923 Jul 12, 2019 (153)
55 GO Exome Sequencing Project NC_000001.10 - 901923 Oct 11, 2018 (152)
56 Qatari NC_000001.10 - 901923 Apr 25, 2020 (154)
57 SGDP_PRJ NC_000001.10 - 901923 Apr 25, 2020 (154)
58 TopMed NC_000001.11 - 966543 Apr 25, 2021 (155)
59 UK 10K study - Twins NC_000001.10 - 901923 Oct 11, 2018 (152)
60 ALFA NC_000001.11 - 966543 Apr 25, 2021 (155)
61 ClinVar RCV000964279.3 Oct 12, 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
ss749601870, ss1584130524 NC_000001.9:891785:C:A NC_000001.11:966542:C:A (self)
9334, 2267, 4394011, 6313, 736, 4036, 16349, 2267, ss328358821, ss341923787, ss489714215, ss491283891, ss1067414317, ss1289344404, ss1599380117, ss1642374150, ss1685220659, ss1751937884, ss1917720858, ss1917962106, ss1945981678, ss1958230327, ss2730991531, ss2746171098, ss2750654555, ss2984841102, ss2986151772, ss3021043331, ss3634301913, ss3640009279, ss3644477547, ss3651365384, ss3653614857, ss3744337285, ss3744602845, ss3772104608, ss3823541999, ss3825548969, ss3847999369, ss3983910399, ss3986090779, ss5316191277, ss5624752285, ss5831420432, ss5847521307, ss5936584910 NC_000001.10:901922:C:A NC_000001.11:966542:C:A (self)
RCV000964279.3, 20606, 99933, 79829, 10961932198, ss2159374037, ss3798745161, ss4436473494, ss5236862301, ss5240868111, ss5442115725, ss5512494671, ss5906709198 NC_000001.11:966542:C:A NC_000001.11:966542:C:A (self)
10961932198 NC_000001.11:966542:C:G NC_000001.11:966542:C:G (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 rs149741186

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.post825+45319f0