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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.

rs145157097

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:241209507 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000861 (228/264690, TOPMED)
T=0.000669 (153/228546, GnomAD_exome)
T=0.000848 (119/140300, GnomAD) (+ 7 more)
T=0.00076 (67/87764, ExAC)
T=0.00137 (59/43054, ALFA)
T=0.00100 (13/12990, GO-ESP)
T=0.0006 (4/6404, 1000G_30x)
T=0.0006 (3/5008, 1000G)
T=0.0016 (6/3854, ALSPAC)
T=0.0030 (11/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ANO7 : 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 43128 C=0.99863 T=0.00137
European Sub 32326 C=0.99836 T=0.00164
African Sub 3574 C=0.9997 T=0.0003
African Others Sub 122 C=1.000 T=0.000
African American Sub 3452 C=0.9997 T=0.0003
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 500 C=1.000 T=0.000
Latin American 2 Sub 628 C=1.000 T=0.000
South Asian Sub 98 C=1.00 T=0.00
Other Sub 5834 C=0.9991 T=0.0009


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=0.999139 T=0.000861
gnomAD - Exomes Global Study-wide 228546 C=0.999331 T=0.000669
gnomAD - Exomes European Sub 120476 C=0.998904 T=0.001096
gnomAD - Exomes Asian Sub 45724 C=0.99998 T=0.00002
gnomAD - Exomes American Sub 32932 C=0.99967 T=0.00033
gnomAD - Exomes African Sub 15212 C=0.99980 T=0.00020
gnomAD - Exomes Ashkenazi Jewish Sub 8640 C=1.0000 T=0.0000
gnomAD - Exomes Other Sub 5562 C=0.9989 T=0.0011
gnomAD - Genomes Global Study-wide 140300 C=0.999152 T=0.000848
gnomAD - Genomes European Sub 75958 C=0.99875 T=0.00125
gnomAD - Genomes African Sub 42072 C=0.99974 T=0.00026
gnomAD - Genomes American Sub 13660 C=0.99919 T=0.00081
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3132 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2154 C=0.9991 T=0.0009
ExAC Global Study-wide 87764 C=0.99924 T=0.00076
ExAC Europe Sub 53154 C=0.99878 T=0.00122
ExAC Asian Sub 17240 C=1.00000 T=0.00000
ExAC American Sub 9282 C=0.9998 T=0.0002
ExAC African Sub 7510 C=1.0000 T=0.0000
ExAC Other Sub 578 C=1.000 T=0.000
Allele Frequency Aggregator Total Global 43054 C=0.99863 T=0.00137
Allele Frequency Aggregator European Sub 32272 C=0.99836 T=0.00164
Allele Frequency Aggregator Other Sub 5828 C=0.9991 T=0.0009
Allele Frequency Aggregator African Sub 3560 C=0.9997 T=0.0003
Allele Frequency Aggregator Latin American 2 Sub 628 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 168 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 12990 C=0.99900 T=0.00100
GO Exome Sequencing Project European American Sub 8592 C=0.9985 T=0.0015
GO Exome Sequencing Project African American Sub 4398 C=1.0000 T=0.0000
1000Genomes_30x Global Study-wide 6404 C=0.9994 T=0.0006
1000Genomes_30x African Sub 1786 C=1.0000 T=0.0000
1000Genomes_30x Europe Sub 1266 C=0.9968 T=0.0032
1000Genomes_30x South Asian Sub 1202 C=1.0000 T=0.0000
1000Genomes_30x East Asian Sub 1170 C=1.0000 T=0.0000
1000Genomes_30x American Sub 980 C=1.000 T=0.000
1000Genomes Global Study-wide 5008 C=0.9994 T=0.0006
1000Genomes African Sub 1322 C=1.0000 T=0.0000
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=0.9970 T=0.0030
1000Genomes South Asian Sub 978 C=1.000 T=0.000
1000Genomes American Sub 694 C=1.000 T=0.000
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9984 T=0.0016
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9970 T=0.0030
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 2 NC_000002.12:g.241209507C>T
GRCh37.p13 chr 2 NC_000002.11:g.242148922C>T
ANO7 RefSeqGene NG_029845.2:g.25999C>T
Gene: ANO7, anoctamin 7 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ANO7 transcript variant 2 NM_001001666.4:c. N/A Genic Downstream Transcript Variant
ANO7 transcript variant 1 NM_001370694.2:c.1231C>T R [CGG] > W [TGG] Coding Sequence Variant
anoctamin-7 isoform 1 NP_001357623.1:p.Arg411Trp R (Arg) > W (Trp) Missense Variant
ANO7 transcript variant X27 XM_047444617.1:c.*26= N/A 3 Prime UTR Variant
ANO7 transcript variant X1 XM_047444596.1:c.1354C>T R [CGG] > W [TGG] Coding Sequence Variant
anoctamin-7 isoform X1 XP_047300552.1:p.Arg452Trp R (Arg) > W (Trp) Missense Variant
ANO7 transcript variant X2 XM_047444597.1:c.1351C>T R [CGG] > W [TGG] Coding Sequence Variant
anoctamin-7 isoform X2 XP_047300553.1:p.Arg451Trp R (Arg) > W (Trp) Missense Variant
ANO7 transcript variant X3 XM_047444598.1:c.1342C>T R [CGG] > W [TGG] Coding Sequence Variant
anoctamin-7 isoform X3 XP_047300554.1:p.Arg448Trp R (Arg) > W (Trp) Missense Variant
ANO7 transcript variant X4 XM_047444599.1:c.1354C>T R [CGG] > W [TGG] Coding Sequence Variant
anoctamin-7 isoform X4 XP_047300555.1:p.Arg452Trp R (Arg) > W (Trp) Missense Variant
ANO7 transcript variant X5 XM_047444600.1:c.1288C>T R [CGG] > W [TGG] Coding Sequence Variant
anoctamin-7 isoform X5 XP_047300556.1:p.Arg430Trp R (Arg) > W (Trp) Missense Variant
ANO7 transcript variant X6 XM_047444601.1:c.1285C>T R [CGG] > W [TGG] Coding Sequence Variant
anoctamin-7 isoform X6 XP_047300557.1:p.Arg429Trp R (Arg) > W (Trp) Missense Variant
ANO7 transcript variant X7 XM_047444602.1:c.1279C>T R [CGG] > W [TGG] Coding Sequence Variant
anoctamin-7 isoform X7 XP_047300558.1:p.Arg427Trp R (Arg) > W (Trp) Missense Variant
ANO7 transcript variant X8 XM_011511263.3:c.1273C>T R [CGG] > W [TGG] Coding Sequence Variant
anoctamin-7 isoform X8 XP_011509565.2:p.Arg425Trp R (Arg) > W (Trp) Missense Variant
ANO7 transcript variant X9 XM_047444603.1:c.1273C>T R [CGG] > W [TGG] Coding Sequence Variant
anoctamin-7 isoform X9 XP_047300559.1:p.Arg425Trp R (Arg) > W (Trp) Missense Variant
ANO7 transcript variant X10 XM_047444604.1:c.1354C>T R [CGG] > W [TGG] Coding Sequence Variant
anoctamin-7 isoform X10 XP_047300560.1:p.Arg452Trp R (Arg) > W (Trp) Missense Variant
ANO7 transcript variant X11 XM_047444606.1:c.1354C>T R [CGG] > W [TGG] Coding Sequence Variant
anoctamin-7 isoform X11 XP_047300562.1:p.Arg452Trp R (Arg) > W (Trp) Missense Variant
ANO7 transcript variant X12 XM_011511267.3:c.1354C>T R [CGG] > W [TGG] Coding Sequence Variant
anoctamin-7 isoform X12 XP_011509569.2:p.Arg452Trp R (Arg) > W (Trp) Missense Variant
ANO7 transcript variant X13 XM_047444607.1:c.1354C>T R [CGG] > W [TGG] Coding Sequence Variant
anoctamin-7 isoform X13 XP_047300563.1:p.Arg452Trp R (Arg) > W (Trp) Missense Variant
ANO7 transcript variant X14 XM_047444608.1:c.1354C>T R [CGG] > W [TGG] Coding Sequence Variant
anoctamin-7 isoform X14 XP_047300564.1:p.Arg452Trp R (Arg) > W (Trp) Missense Variant
ANO7 transcript variant X15 XM_047444609.1:c.1354C>T R [CGG] > W [TGG] Coding Sequence Variant
anoctamin-7 isoform X15 XP_047300565.1:p.Arg452Trp R (Arg) > W (Trp) Missense Variant
ANO7 transcript variant X16 XM_047444610.1:c.1354C>T R [CGG] > W [TGG] Coding Sequence Variant
anoctamin-7 isoform X15 XP_047300566.1:p.Arg452Trp R (Arg) > W (Trp) Missense Variant
ANO7 transcript variant X17 XM_047444611.1:c.1354C>T R [CGG] > W [TGG] Coding Sequence Variant
anoctamin-7 isoform X16 XP_047300567.1:p.Arg452Trp R (Arg) > W (Trp) Missense Variant
ANO7 transcript variant X18 XM_017004229.2:c.1354C>T R [CGG] > W [TGG] Coding Sequence Variant
anoctamin-7 isoform X17 XP_016859718.2:p.Arg452Trp R (Arg) > W (Trp) Missense Variant
ANO7 transcript variant X19 XM_017004230.2:c.1066C>T R [CGG] > W [TGG] Coding Sequence Variant
anoctamin-7 isoform X18 XP_016859719.1:p.Arg356Trp R (Arg) > W (Trp) Missense Variant
ANO7 transcript variant X20 XM_047444612.1:c.1354C>T R [CGG] > W [TGG] Coding Sequence Variant
anoctamin-7 isoform X19 XP_047300568.1:p.Arg452Trp R (Arg) > W (Trp) Missense Variant
ANO7 transcript variant X23 XM_047444613.1:c.1354C>T R [CGG] > W [TGG] Coding Sequence Variant
anoctamin-7 isoform X20 XP_047300569.1:p.Arg452Trp R (Arg) > W (Trp) Missense Variant
ANO7 transcript variant X24 XM_047444614.1:c.1354C>T R [CGG] > W [TGG] Coding Sequence Variant
anoctamin-7 isoform X21 XP_047300570.1:p.Arg452Trp R (Arg) > W (Trp) Missense Variant
ANO7 transcript variant X25 XM_047444615.1:c.1354C>T R [CGG] > W [TGG] Coding Sequence Variant
anoctamin-7 isoform X22 XP_047300571.1:p.Arg452Trp R (Arg) > W (Trp) Missense Variant
ANO7 transcript variant X26 XM_047444616.1:c.1416C>T L [CTC] > L [CTT] Coding Sequence Variant
anoctamin-7 isoform X23 XP_047300572.1:p.Leu472= L (Leu) > L (Leu) Synonymous Variant
ANO7 transcript variant X28 XM_047444618.1:c.1326C>T L [CTC] > L [CTT] Coding Sequence Variant
anoctamin-7 isoform X25 XP_047300574.1:p.Leu442= L (Leu) > L (Leu) Synonymous Variant
ANO7 transcript variant X29 XM_047444619.1:c.1314C>T L [CTC] > L [CTT] Coding Sequence Variant
anoctamin-7 isoform X26 XP_047300575.1:p.Leu438= L (Leu) > L (Leu) Synonymous Variant
ANO7 transcript variant X21 XR_007076376.1:n.1406C>T N/A Non Coding Transcript Variant
ANO7 transcript variant X22 XR_007076377.1:n.1406C>T N/A Non Coding 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.

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= T
GRCh38.p14 chr 2 NC_000002.12:g.241209507= NC_000002.12:g.241209507C>T
GRCh37.p13 chr 2 NC_000002.11:g.242148922= NC_000002.11:g.242148922C>T
ANO7 RefSeqGene NG_029845.2:g.25999= NG_029845.2:g.25999C>T
ANO7 transcript variant 1 NM_001370694.2:c.1231= NM_001370694.2:c.1231C>T
ANO7 transcript variant 1 NM_001370694.1:c.1231= NM_001370694.1:c.1231C>T
ANO7 transcript variant NGEP-L NM_001001891.3:c.1393= NM_001001891.3:c.1393C>T
ANO7 transcript variant X8 XM_011511263.3:c.1273= XM_011511263.3:c.1273C>T
ANO7 transcript variant X1 XM_011511263.2:c.1390= XM_011511263.2:c.1390C>T
ANO7 transcript variant X8 XM_011511263.1:c.1390= XM_011511263.1:c.1390C>T
ANO7 transcript variant X12 XM_011511267.3:c.1354= XM_011511267.3:c.1354C>T
ANO7 transcript variant X2 XM_011511267.2:c.1471= XM_011511267.2:c.1471C>T
ANO7 transcript variant X13 XM_011511267.1:c.1471= XM_011511267.1:c.1471C>T
ANO7 transcript variant X19 XM_017004230.2:c.1066= XM_017004230.2:c.1066C>T
ANO7 transcript variant X4 XM_017004230.1:c.1066= XM_017004230.1:c.1066C>T
ANO7 transcript variant X18 XM_017004229.2:c.1354= XM_017004229.2:c.1354C>T
ANO7 transcript variant X3 XM_017004229.1:c.1471= XM_017004229.1:c.1471C>T
ANO7 transcript variant X4 XM_047444599.1:c.1354= XM_047444599.1:c.1354C>T
ANO7 transcript variant X9 XM_047444603.1:c.1273= XM_047444603.1:c.1273C>T
ANO7 transcript variant X1 XM_047444596.1:c.1354= XM_047444596.1:c.1354C>T
ANO7 transcript variant X2 XM_047444597.1:c.1351= XM_047444597.1:c.1351C>T
ANO7 transcript variant X3 XM_047444598.1:c.1342= XM_047444598.1:c.1342C>T
ANO7 transcript variant X5 XM_047444600.1:c.1288= XM_047444600.1:c.1288C>T
ANO7 transcript variant X6 XM_047444601.1:c.1285= XM_047444601.1:c.1285C>T
ANO7 transcript variant X7 XM_047444602.1:c.1279= XM_047444602.1:c.1279C>T
ANO7 transcript variant X10 XM_047444604.1:c.1354= XM_047444604.1:c.1354C>T
ANO7 transcript variant X11 XM_047444606.1:c.1354= XM_047444606.1:c.1354C>T
ANO7 transcript variant X15 XM_047444609.1:c.1354= XM_047444609.1:c.1354C>T
ANO7 transcript variant X13 XM_047444607.1:c.1354= XM_047444607.1:c.1354C>T
ANO7 transcript variant X16 XM_047444610.1:c.1354= XM_047444610.1:c.1354C>T
ANO7 transcript variant X20 XM_047444612.1:c.1354= XM_047444612.1:c.1354C>T
ANO7 transcript variant X17 XM_047444611.1:c.1354= XM_047444611.1:c.1354C>T
ANO7 transcript variant X14 XM_047444608.1:c.1354= XM_047444608.1:c.1354C>T
ANO7 transcript variant X21 XR_007076376.1:n.1406= XR_007076376.1:n.1406C>T
ANO7 transcript variant X22 XR_007076377.1:n.1406= XR_007076377.1:n.1406C>T
ANO7 transcript variant X24 XM_047444614.1:c.1354= XM_047444614.1:c.1354C>T
ANO7 transcript variant X23 XM_047444613.1:c.1354= XM_047444613.1:c.1354C>T
ANO7 transcript variant X25 XM_047444615.1:c.1354= XM_047444615.1:c.1354C>T
ANO7 transcript variant X26 XM_047444616.1:c.1416= XM_047444616.1:c.1416C>T
ANO7 transcript variant X27 XM_047444617.1:c.*26= XM_047444617.1:c.*26C>T
ANO7 transcript variant X28 XM_047444618.1:c.1326= XM_047444618.1:c.1326C>T
ANO7 transcript variant X29 XM_047444619.1:c.1314= XM_047444619.1:c.1314C>T
anoctamin-7 isoform 1 NP_001357623.1:p.Arg411= NP_001357623.1:p.Arg411Trp
anoctamin-7 isoform X8 XP_011509565.2:p.Arg425= XP_011509565.2:p.Arg425Trp
anoctamin-7 isoform X12 XP_011509569.2:p.Arg452= XP_011509569.2:p.Arg452Trp
anoctamin-7 isoform X18 XP_016859719.1:p.Arg356= XP_016859719.1:p.Arg356Trp
anoctamin-7 isoform X17 XP_016859718.2:p.Arg452= XP_016859718.2:p.Arg452Trp
anoctamin-7 isoform X4 XP_047300555.1:p.Arg452= XP_047300555.1:p.Arg452Trp
anoctamin-7 isoform X9 XP_047300559.1:p.Arg425= XP_047300559.1:p.Arg425Trp
anoctamin-7 isoform X1 XP_047300552.1:p.Arg452= XP_047300552.1:p.Arg452Trp
anoctamin-7 isoform X2 XP_047300553.1:p.Arg451= XP_047300553.1:p.Arg451Trp
anoctamin-7 isoform X3 XP_047300554.1:p.Arg448= XP_047300554.1:p.Arg448Trp
anoctamin-7 isoform X5 XP_047300556.1:p.Arg430= XP_047300556.1:p.Arg430Trp
anoctamin-7 isoform X6 XP_047300557.1:p.Arg429= XP_047300557.1:p.Arg429Trp
anoctamin-7 isoform X7 XP_047300558.1:p.Arg427= XP_047300558.1:p.Arg427Trp
anoctamin-7 isoform X10 XP_047300560.1:p.Arg452= XP_047300560.1:p.Arg452Trp
anoctamin-7 isoform X11 XP_047300562.1:p.Arg452= XP_047300562.1:p.Arg452Trp
anoctamin-7 isoform X15 XP_047300565.1:p.Arg452= XP_047300565.1:p.Arg452Trp
anoctamin-7 isoform X13 XP_047300563.1:p.Arg452= XP_047300563.1:p.Arg452Trp
anoctamin-7 isoform X15 XP_047300566.1:p.Arg452= XP_047300566.1:p.Arg452Trp
anoctamin-7 isoform X19 XP_047300568.1:p.Arg452= XP_047300568.1:p.Arg452Trp
anoctamin-7 isoform X16 XP_047300567.1:p.Arg452= XP_047300567.1:p.Arg452Trp
anoctamin-7 isoform X14 XP_047300564.1:p.Arg452= XP_047300564.1:p.Arg452Trp
anoctamin-7 isoform X21 XP_047300570.1:p.Arg452= XP_047300570.1:p.Arg452Trp
anoctamin-7 isoform X20 XP_047300569.1:p.Arg452= XP_047300569.1:p.Arg452Trp
anoctamin-7 isoform X22 XP_047300571.1:p.Arg452= XP_047300571.1:p.Arg452Trp
anoctamin-7 isoform X23 XP_047300572.1:p.Leu472= XP_047300572.1:p.Leu472=
anoctamin-7 isoform X25 XP_047300574.1:p.Leu442= XP_047300574.1:p.Leu442=
anoctamin-7 isoform X26 XP_047300575.1:p.Leu438= XP_047300575.1:p.Leu438=
anoctamin-7 isoform NGEP-long NP_001001891.2:p.Arg465= NP_001001891.2:p.Arg465Trp
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#.

35 SubSNP, 10 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss330425380 May 09, 2011 (134)
2 NHLBI-ESP ss342109838 May 09, 2011 (134)
3 1000GENOMES ss489861918 May 04, 2012 (137)
4 EXOME_CHIP ss491334605 May 04, 2012 (137)
5 1000GENOMES ss1302378165 Aug 21, 2014 (142)
6 EVA_DECODE ss1587614816 Apr 01, 2015 (144)
7 EVA_UK10K_ALSPAC ss1606190644 Apr 01, 2015 (144)
8 EVA_UK10K_TWINSUK ss1649184677 Apr 01, 2015 (144)
9 EVA_EXAC ss1686832806 Apr 01, 2015 (144)
10 ILLUMINA ss1958525962 Feb 12, 2016 (147)
11 HUMAN_LONGEVITY ss2240655646 Dec 20, 2016 (150)
12 GNOMAD ss2733485333 Nov 08, 2017 (151)
13 GNOMAD ss2746928767 Nov 08, 2017 (151)
14 GNOMAD ss2788371966 Nov 08, 2017 (151)
15 AFFY ss2985206290 Nov 08, 2017 (151)
16 SWEGEN ss2991656646 Nov 08, 2017 (151)
17 ILLUMINA ss3022091059 Nov 08, 2017 (151)
18 ILLUMINA ss3652544493 Oct 11, 2018 (152)
19 ILLUMINA ss3653974453 Oct 11, 2018 (152)
20 EVA_DECODE ss3706389319 Jul 13, 2019 (153)
21 EVA ss3823876250 Apr 25, 2020 (154)
22 EVA ss3825624522 Apr 25, 2020 (154)
23 EVA ss3837221986 Apr 25, 2020 (154)
24 EVA ss3842645104 Apr 25, 2020 (154)
25 TOPMED ss4550771444 Apr 27, 2021 (155)
26 EVA ss5237638719 Oct 17, 2022 (156)
27 1000G_HIGH_COVERAGE ss5252677471 Oct 17, 2022 (156)
28 EVA ss5337219732 Oct 17, 2022 (156)
29 HUGCELL_USP ss5452223671 Oct 17, 2022 (156)
30 1000G_HIGH_COVERAGE ss5530330633 Oct 17, 2022 (156)
31 EVA ss5847910903 Oct 17, 2022 (156)
32 EVA ss5848540968 Oct 17, 2022 (156)
33 EVA ss5935449552 Oct 17, 2022 (156)
34 EVA ss5957592070 Oct 17, 2022 (156)
35 EVA ss5979606977 Oct 17, 2022 (156)
36 1000Genomes NC_000002.11 - 242148922 Oct 11, 2018 (152)
37 1000Genomes_30x NC_000002.12 - 241209507 Oct 17, 2022 (156)
38 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 242148922 Oct 11, 2018 (152)
39 ExAC NC_000002.11 - 242148922 Oct 11, 2018 (152)
40 gnomAD - Genomes NC_000002.12 - 241209507 Apr 27, 2021 (155)
41 gnomAD - Exomes NC_000002.11 - 242148922 Jul 13, 2019 (153)
42 GO Exome Sequencing Project NC_000002.11 - 242148922 Oct 11, 2018 (152)
43 TopMed NC_000002.12 - 241209507 Apr 27, 2021 (155)
44 UK 10K study - Twins NC_000002.11 - 242148922 Oct 11, 2018 (152)
45 ALFA NC_000002.12 - 241209507 Apr 27, 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
ss1587614816 NC_000002.10:241797594:C:T NC_000002.12:241209506:C:T (self)
13509310, 7487917, 6744473, 2554705, 334642, 7487917, ss330425380, ss342109838, ss489861918, ss491334605, ss1302378165, ss1606190644, ss1649184677, ss1686832806, ss1958525962, ss2733485333, ss2746928767, ss2788371966, ss2985206290, ss2991656646, ss3022091059, ss3652544493, ss3653974453, ss3823876250, ss3825624522, ss3837221986, ss5337219732, ss5847910903, ss5848540968, ss5957592070, ss5979606977 NC_000002.11:242148921:C:T NC_000002.12:241209506:C:T (self)
17856568, 96112173, 354594323, 9888295710, ss2240655646, ss3706389319, ss3842645104, ss4550771444, ss5237638719, ss5252677471, ss5452223671, ss5530330633, ss5935449552 NC_000002.12:241209506:C:T NC_000002.12:241209506: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 rs145157097

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