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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.

rs149339264

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:156137190 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.001375 (364/264690, TOPMED)
T=0.000437 (102/233258, GnomAD_exome)
T=0.001234 (173/140210, GnomAD) (+ 8 more)
T=0.00068 (49/71542, ExAC)
T=0.00046 (13/28002, ALFA)
T=0.00131 (17/13002, GO-ESP)
T=0.0022 (14/6404, 1000G_30x)
T=0.0024 (12/5008, 1000G)
T=0.001 (1/998, GoNL)
C=0.5 (4/8, SGDP_PRJ)
T=0.5 (4/8, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
LMNA : Stop Gained
Publications
2 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 43788 C=0.99936 T=0.00064
European Sub 29244 C=1.00000 T=0.00000
African Sub 8312 C=0.9972 T=0.0028
African Others Sub 304 C=0.993 T=0.007
African American Sub 8008 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=1.000 T=0.000
South Asian Sub 98 C=1.00 T=0.00
Other Sub 5210 C=0.9990 T=0.0010


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=0.998625 T=0.001375
gnomAD - Exomes Global Study-wide 233258 C=0.999563 T=0.000437
gnomAD - Exomes European Sub 123560 C=0.999895 T=0.000105
gnomAD - Exomes Asian Sub 46476 C=0.99994 T=0.00006
gnomAD - Exomes American Sub 32680 C=0.99917 T=0.00083
gnomAD - Exomes African Sub 15116 C=0.99623 T=0.00377
gnomAD - Exomes Ashkenazi Jewish Sub 9684 C=1.0000 T=0.0000
gnomAD - Exomes Other Sub 5742 C=0.9997 T=0.0003
gnomAD - Genomes Global Study-wide 140210 C=0.998766 T=0.001234
gnomAD - Genomes European Sub 75942 C=0.99989 T=0.00011
gnomAD - Genomes African Sub 42012 C=0.99636 T=0.00364
gnomAD - Genomes American Sub 13654 C=0.99934 T=0.00066
gnomAD - Genomes Ashkenazi Jewish Sub 3318 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3130 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2154 C=0.9986 T=0.0014
ExAC Global Study-wide 71542 C=0.99932 T=0.00068
ExAC Europe Sub 41702 C=0.99986 T=0.00014
ExAC Asian Sub 17018 C=0.99988 T=0.00012
ExAC African Sub 6870 C=0.9949 T=0.0051
ExAC American Sub 5392 C=0.9991 T=0.0009
ExAC Other Sub 560 C=0.998 T=0.002
Allele Frequency Aggregator Total Global 28002 C=0.99954 T=0.00046
Allele Frequency Aggregator European Sub 19622 C=1.00000 T=0.00000
Allele Frequency Aggregator Other Sub 3818 C=0.9990 T=0.0010
Allele Frequency Aggregator African Sub 3540 C=0.9975 T=0.0025
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
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 13002 C=0.99869 T=0.00131
GO Exome Sequencing Project European American Sub 8596 C=1.0000 T=0.0000
GO Exome Sequencing Project African American Sub 4406 C=0.9961 T=0.0039
1000Genomes_30x Global Study-wide 6404 C=0.9978 T=0.0022
1000Genomes_30x African Sub 1786 C=0.9955 T=0.0045
1000Genomes_30x Europe Sub 1266 C=0.9992 T=0.0008
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=0.995 T=0.005
1000Genomes Global Study-wide 5008 C=0.9976 T=0.0024
1000Genomes African Sub 1322 C=0.9947 T=0.0053
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=0.9990 T=0.0010
1000Genomes South Asian Sub 978 C=1.000 T=0.000
1000Genomes American Sub 694 C=0.994 T=0.006
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.999 T=0.001
SGDP_PRJ Global Study-wide 8 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 1 NC_000001.11:g.156137190C>A
GRCh38.p14 chr 1 NC_000001.11:g.156137190C>T
GRCh37.p13 chr 1 NC_000001.10:g.156106981C>A
GRCh37.p13 chr 1 NC_000001.10:g.156106981C>T
LMNA RefSeqGene (LRG_254) NG_008692.2:g.59618C>A
LMNA RefSeqGene (LRG_254) NG_008692.2:g.59618C>T
Gene: LMNA, lamin A/C (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LMNA transcript variant 1 NM_170707.4:c.1566C>A C [TGC] > * [TGA] Coding Sequence Variant
lamin isoform A NP_733821.1:p.Cys522Ter C (Cys) > * (Ter) Stop Gained
LMNA transcript variant 1 NM_170707.4:c.1566C>T C [TGC] > C [TGT] Coding Sequence Variant
lamin isoform A NP_733821.1:p.Cys522= C (Cys) > C (Cys) Synonymous Variant
LMNA transcript variant 4 NM_001257374.3:c.1230C>A C [TGC] > * [TGA] Coding Sequence Variant
lamin isoform D NP_001244303.1:p.Cys410Ter C (Cys) > * (Ter) Stop Gained
LMNA transcript variant 4 NM_001257374.3:c.1230C>T C [TGC] > C [TGT] Coding Sequence Variant
lamin isoform D NP_001244303.1:p.Cys410= C (Cys) > C (Cys) Synonymous Variant
LMNA transcript variant 7 NM_001282626.2:c.1566C>A C [TGC] > * [TGA] Coding Sequence Variant
lamin isoform A-delta50 NP_001269555.1:p.Cys522Ter C (Cys) > * (Ter) Stop Gained
LMNA transcript variant 7 NM_001282626.2:c.1566C>T C [TGC] > C [TGT] Coding Sequence Variant
lamin isoform A-delta50 NP_001269555.1:p.Cys522= C (Cys) > C (Cys) Synonymous Variant
LMNA transcript variant 2 NM_005572.4:c.1566C>A C [TGC] > * [TGA] Coding Sequence Variant
lamin isoform C NP_005563.1:p.Cys522Ter C (Cys) > * (Ter) Stop Gained
LMNA transcript variant 2 NM_005572.4:c.1566C>T C [TGC] > C [TGT] Coding Sequence Variant
lamin isoform C NP_005563.1:p.Cys522= C (Cys) > C (Cys) Synonymous Variant
LMNA transcript variant 5 NM_001282624.2:c.1323C>A C [TGC] > * [TGA] Coding Sequence Variant
lamin isoform E NP_001269553.1:p.Cys441Ter C (Cys) > * (Ter) Stop Gained
LMNA transcript variant 5 NM_001282624.2:c.1323C>T C [TGC] > C [TGT] Coding Sequence Variant
lamin isoform E NP_001269553.1:p.Cys441= C (Cys) > C (Cys) Synonymous Variant
LMNA transcript variant 3 NM_170708.4:c.1566C>A C [TGC] > * [TGA] Coding Sequence Variant
lamin isoform A-delta10 NP_733822.1:p.Cys522Ter C (Cys) > * (Ter) Stop Gained
LMNA transcript variant 3 NM_170708.4:c.1566C>T C [TGC] > C [TGT] Coding Sequence Variant
lamin isoform A-delta10 NP_733822.1:p.Cys522= C (Cys) > C (Cys) Synonymous Variant
LMNA transcript variant 6 NM_001282625.2:c.1566C>A C [TGC] > * [TGA] Coding Sequence Variant
lamin isoform C NP_001269554.1:p.Cys522Ter C (Cys) > * (Ter) Stop Gained
LMNA transcript variant 6 NM_001282625.2:c.1566C>T C [TGC] > C [TGT] Coding Sequence Variant
lamin isoform C NP_001269554.1:p.Cys522= C (Cys) > C (Cys) Synonymous Variant
LMNA transcript variant X2 XM_047420430.1:c. N/A Genic Downstream Transcript Variant
LMNA transcript variant X1 XM_011509533.2:c.1230C>A C [TGC] > * [TGA] Coding Sequence Variant
lamin isoform X1 XP_011507835.1:p.Cys410Ter C (Cys) > * (Ter) Stop Gained
LMNA transcript variant X1 XM_011509533.2:c.1230C>T C [TGC] > C [TGT] Coding Sequence Variant
lamin isoform X1 XP_011507835.1:p.Cys410= C (Cys) > C (Cys) Synonymous 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: 257928 )
ClinVar Accession Disease Names Clinical Significance
RCV000250959.2 Cardiovascular phenotype Pathogenic
Allele: T (allele ID: 57207 )
ClinVar Accession Disease Names Clinical Significance
RCV000041322.17 not specified Conflicting-Interpretations-Of-Pathogenicity
RCV000233927.12 Charcot-Marie-Tooth disease type 2 Benign
RCV000242680.2 Cardiovascular phenotype Likely-Benign
RCV000262946.4 Dilated cardiomyopathy 1A Likely-Benign
RCV000285909.5 Hutchinson-Gilford syndrome Likely-Benign
RCV000289458.4 Emery-Dreifuss muscular dystrophy Likely-Benign
RCV000320484.4 Familial partial lipodystrophy, Dunnigan type Likely-Benign
RCV000337260.4 Limb-Girdle Muscular Dystrophy, Recessive Likely-Benign
RCV000340752.4 Mandibuloacral dysplasia with type A lipodystrophy Likely-Benign
RCV000377490.4 Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Likely-Benign
RCV000380292.4 Congenital muscular dystrophy due to LMNA mutation Likely-Benign
RCV000399953.4 Lethal tight skin contracture syndrome Likely-Benign
RCV000777760.2 Cardiomyopathy Benign
RCV001093764.3 Charcot-Marie-Tooth disease type 2B1 Likely-Benign
RCV001098994.3 Benign scapuloperoneal muscular dystrophy with cardiomyopathy Likely-Benign
RCV001172631.2 Charcot-Marie-Tooth disease Likely-Benign
RCV001310873.11 not provided Likely-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 T
GRCh38.p14 chr 1 NC_000001.11:g.156137190= NC_000001.11:g.156137190C>A NC_000001.11:g.156137190C>T
GRCh37.p13 chr 1 NC_000001.10:g.156106981= NC_000001.10:g.156106981C>A NC_000001.10:g.156106981C>T
LMNA RefSeqGene (LRG_254) NG_008692.2:g.59618= NG_008692.2:g.59618C>A NG_008692.2:g.59618C>T
LMNA transcript variant 1 NM_170707.4:c.1566= NM_170707.4:c.1566C>A NM_170707.4:c.1566C>T
LMNA transcript variant 1 NM_170707.3:c.1566= NM_170707.3:c.1566C>A NM_170707.3:c.1566C>T
LMNA transcript variant 3 NM_170708.4:c.1566= NM_170708.4:c.1566C>A NM_170708.4:c.1566C>T
LMNA transcript variant 3 NM_170708.3:c.1566= NM_170708.3:c.1566C>A NM_170708.3:c.1566C>T
LMNA transcript variant 2 NM_005572.4:c.1566= NM_005572.4:c.1566C>A NM_005572.4:c.1566C>T
LMNA transcript variant 2 NM_005572.3:c.1566= NM_005572.3:c.1566C>A NM_005572.3:c.1566C>T
LMNA transcript variant 4 NM_001257374.3:c.1230= NM_001257374.3:c.1230C>A NM_001257374.3:c.1230C>T
LMNA transcript variant 4 NM_001257374.2:c.1230= NM_001257374.2:c.1230C>A NM_001257374.2:c.1230C>T
LMNA transcript variant 4 NM_001257374.1:c.1230= NM_001257374.1:c.1230C>A NM_001257374.1:c.1230C>T
LMNA transcript variant 7 NM_001282626.2:c.1566= NM_001282626.2:c.1566C>A NM_001282626.2:c.1566C>T
LMNA transcript variant 7 NM_001282626.1:c.1566= NM_001282626.1:c.1566C>A NM_001282626.1:c.1566C>T
LMNA transcript variant 6 NM_001282625.2:c.1566= NM_001282625.2:c.1566C>A NM_001282625.2:c.1566C>T
LMNA transcript variant 6 NM_001282625.1:c.1566= NM_001282625.1:c.1566C>A NM_001282625.1:c.1566C>T
LMNA transcript variant 5 NM_001282624.2:c.1323= NM_001282624.2:c.1323C>A NM_001282624.2:c.1323C>T
LMNA transcript variant 5 NM_001282624.1:c.1323= NM_001282624.1:c.1323C>A NM_001282624.1:c.1323C>T
LMNA transcript variant 8 NM_001406983.1:c.1566= NM_001406983.1:c.1566C>A NM_001406983.1:c.1566C>T
LMNA transcript variant 24 NM_001406999.1:c.942= NM_001406999.1:c.942C>A NM_001406999.1:c.942C>T
LMNA transcript variant 13 NM_001406986.1:c.1323= NM_001406986.1:c.1323C>A NM_001406986.1:c.1323C>T
LMNA transcript variant 9 NM_001406991.1:c.1566= NM_001406991.1:c.1566C>A NM_001406991.1:c.1566C>T
LMNA transcript variant 25 NM_001407000.1:c.942= NM_001407000.1:c.942C>A NM_001407000.1:c.942C>T
LMNA transcript variant 26 NM_001407001.1:c.942= NM_001407001.1:c.942C>A NM_001407001.1:c.942C>T
LMNA transcript variant 20 NM_001406995.1:c.1008= NM_001406995.1:c.1008C>A NM_001406995.1:c.1008C>T
LMNA transcript variant 21 NM_001406996.1:c.1008= NM_001406996.1:c.1008C>A NM_001406996.1:c.1008C>T
LMNA transcript variant 14 NM_001406987.1:c.1323= NM_001406987.1:c.1323C>A NM_001406987.1:c.1323C>T
LMNA transcript variant 15 NM_001406988.1:c.1269= NM_001406988.1:c.1269C>A NM_001406988.1:c.1269C>T
LMNA transcript variant 18 NM_001406993.1:c.1008= NM_001406993.1:c.1008C>A NM_001406993.1:c.1008C>T
LMNA transcript variant 22 NM_001406997.1:c.1008= NM_001406997.1:c.1008C>A NM_001406997.1:c.1008C>T
LMNA transcript variant 16 NM_001406989.1:c.1230= NM_001406989.1:c.1230C>A NM_001406989.1:c.1230C>T
LMNA transcript variant 19 NM_001406994.1:c.942= NM_001406994.1:c.942C>A NM_001406994.1:c.942C>T
LMNA transcript variant 12 NM_001406985.1:c.1566= NM_001406985.1:c.1566C>A NM_001406985.1:c.1566C>T
LMNA transcript variant 10 NM_001406984.1:c.1566= NM_001406984.1:c.1566C>A NM_001406984.1:c.1566C>T
LMNA transcript variant 17 NM_001406990.1:c.1008= NM_001406990.1:c.1008C>A NM_001406990.1:c.1008C>T
LMNA transcript variant 27 NM_001407002.1:c.1008= NM_001407002.1:c.1008C>A NM_001407002.1:c.1008C>T
LMNA transcript variant 11 NM_001406992.1:c.1566= NM_001406992.1:c.1566C>A NM_001406992.1:c.1566C>T
LMNA transcript variant 28 NM_001407003.1:c.1008= NM_001407003.1:c.1008C>A NM_001407003.1:c.1008C>T
LMNA transcript variant 23 NM_001406998.1:c.1230= NM_001406998.1:c.1230C>A NM_001406998.1:c.1230C>T
LMNA transcript variant X1 XM_011509533.2:c.1230= XM_011509533.2:c.1230C>A XM_011509533.2:c.1230C>T
LMNA transcript variant 6 NR_047544.1:n.2207= NR_047544.1:n.2207C>A NR_047544.1:n.2207C>T
LMNA transcript variant 5 NR_047545.1:n.1454= NR_047545.1:n.1454C>A NR_047545.1:n.1454C>T
lamin isoform A NP_733821.1:p.Cys522= NP_733821.1:p.Cys522Ter NP_733821.1:p.Cys522=
lamin isoform A-delta10 NP_733822.1:p.Cys522= NP_733822.1:p.Cys522Ter NP_733822.1:p.Cys522=
lamin isoform C NP_005563.1:p.Cys522= NP_005563.1:p.Cys522Ter NP_005563.1:p.Cys522=
lamin isoform D NP_001244303.1:p.Cys410= NP_001244303.1:p.Cys410Ter NP_001244303.1:p.Cys410=
lamin isoform A-delta50 NP_001269555.1:p.Cys522= NP_001269555.1:p.Cys522Ter NP_001269555.1:p.Cys522=
lamin isoform C NP_001269554.1:p.Cys522= NP_001269554.1:p.Cys522Ter NP_001269554.1:p.Cys522=
lamin isoform E NP_001269553.1:p.Cys441= NP_001269553.1:p.Cys441Ter NP_001269553.1:p.Cys441=
lamin isoform X1 XP_011507835.1:p.Cys410= XP_011507835.1:p.Cys410Ter XP_011507835.1:p.Cys410=
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#.

23 SubSNP, 10 Frequency, 18 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss341999396 May 09, 2011 (134)
2 1000GENOMES ss454396209 Sep 17, 2011 (135)
3 1000GENOMES ss489768585 May 04, 2012 (137)
4 LMM-PCPGM ss836318442 Nov 27, 2013 (138)
5 EVA-GONL ss975691550 Aug 21, 2014 (142)
6 1000GENOMES ss1292963886 Aug 21, 2014 (142)
7 EVA_EXAC ss1685828724 Apr 01, 2015 (144)
8 CLINVAR ss2136310492 Nov 14, 2016 (149)
9 HUMAN_LONGEVITY ss2166622029 Dec 20, 2016 (150)
10 GNOMAD ss2731929345 Nov 08, 2017 (151)
11 GNOMAD ss2746461029 Nov 08, 2017 (151)
12 GNOMAD ss2761437126 Nov 08, 2017 (151)
13 EVA ss3823667433 Apr 25, 2020 (154)
14 EVA ss3825576541 Apr 25, 2020 (154)
15 SGDP_PRJ ss3850024775 Apr 25, 2020 (154)
16 TOPMED ss4468672245 Apr 25, 2021 (155)
17 1000G_HIGH_COVERAGE ss5244327135 Oct 12, 2022 (156)
18 EVA ss5322113213 Oct 12, 2022 (156)
19 HUGCELL_USP ss5444916111 Oct 12, 2022 (156)
20 1000G_HIGH_COVERAGE ss5517672710 Oct 12, 2022 (156)
21 SANFORD_IMAGENETICS ss5626609026 Oct 12, 2022 (156)
22 EVA ss5910282739 Oct 12, 2022 (156)
23 EVA ss5938403246 Oct 12, 2022 (156)
24 1000Genomes NC_000001.10 - 156106981 Oct 11, 2018 (152)
25 1000Genomes_30x NC_000001.11 - 156137190 Oct 12, 2022 (156)
26 ExAC NC_000001.10 - 156106981 Oct 11, 2018 (152)
27 gnomAD - Genomes NC_000001.11 - 156137190 Apr 25, 2021 (155)
28 gnomAD - Exomes NC_000001.10 - 156106981 Jul 12, 2019 (153)
29 GO Exome Sequencing Project NC_000001.10 - 156106981 Oct 11, 2018 (152)
30 Genome of the Netherlands Release 5 NC_000001.10 - 156106981 Apr 25, 2020 (154)
31 SGDP_PRJ NC_000001.10 - 156106981 Apr 25, 2020 (154)
32 TopMed NC_000001.11 - 156137190 Apr 25, 2021 (155)
33 ALFA NC_000001.11 - 156137190 Apr 25, 2021 (155)
34 ClinVar RCV000041322.17 Oct 12, 2022 (156)
35 ClinVar RCV000233927.12 Oct 12, 2022 (156)
36 ClinVar RCV000242680.2 Oct 12, 2022 (156)
37 ClinVar RCV000250959.2 Jul 12, 2019 (153)
38 ClinVar RCV000262946.4 Oct 12, 2022 (156)
39 ClinVar RCV000285909.5 Oct 12, 2022 (156)
40 ClinVar RCV000289458.4 Oct 12, 2022 (156)
41 ClinVar RCV000320484.4 Oct 12, 2022 (156)
42 ClinVar RCV000337260.4 Oct 12, 2022 (156)
43 ClinVar RCV000340752.4 Oct 12, 2022 (156)
44 ClinVar RCV000377490.4 Oct 12, 2022 (156)
45 ClinVar RCV000380292.4 Oct 12, 2022 (156)
46 ClinVar RCV000399953.4 Oct 12, 2022 (156)
47 ClinVar RCV000777760.2 Oct 12, 2022 (156)
48 ClinVar RCV001093764.3 Oct 12, 2022 (156)
49 ClinVar RCV001098994.3 Oct 12, 2022 (156)
50 ClinVar RCV001172631.2 Oct 12, 2022 (156)
51 ClinVar RCV001310873.11 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
RCV000250959.2, ss2136310492 NC_000001.11:156137189:C:A NC_000001.11:156137189:C:A (self)
3757261, 5048990, 952871, 126018, 886529, 2041755, ss341999396, ss454396209, ss489768585, ss975691550, ss1292963886, ss1685828724, ss2731929345, ss2746461029, ss2761437126, ss3823667433, ss3825576541, ss3850024775, ss5322113213, ss5626609026, ss5938403246 NC_000001.10:156106980:C:T NC_000001.11:156137189:C:T (self)
RCV000041322.17, RCV000233927.12, RCV000242680.2, RCV000262946.4, RCV000285909.5, RCV000289458.4, RCV000320484.4, RCV000337260.4, RCV000340752.4, RCV000377490.4, RCV000380292.4, RCV000399953.4, RCV000777760.2, RCV001093764.3, RCV001098994.3, RCV001172631.2, RCV001310873.11, 5198645, 27364046, 32278580, 12590986112, ss836318442, ss2166622029, ss4468672245, ss5244327135, ss5444916111, ss5517672710, ss5910282739 NC_000001.11:156137189:C:T NC_000001.11:156137189: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.

2 citations for rs149339264
PMID Title Author Year Journal
18414213 ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Richards CS et al. 2008 Genetics in medicine
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
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