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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.

rs4956145

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:108009883 (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
T>A / T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.078325 (26854/342852, ALFA)
T=0.140530 (37197/264690, TOPMED)
T=0.078776 (19808/251446, GnomAD_exome) (+ 26 more)
T=0.084952 (10313/121398, ExAC)
T=0.16528 (13007/78696, PAGE_STUDY)
T=0.03482 (984/28258, 14KJPN)
T=0.03473 (582/16760, 8.3KJPN)
T=0.15055 (1958/13006, GO-ESP)
T=0.1373 (879/6404, 1000G_30x)
T=0.1310 (656/5008, 1000G)
T=0.0799 (358/4480, Estonian)
T=0.0799 (308/3854, ALSPAC)
T=0.0836 (310/3708, TWINSUK)
T=0.0444 (130/2928, KOREAN)
T=0.0845 (176/2084, HGDP_Stanford)
T=0.1466 (277/1890, HapMap)
T=0.0448 (82/1832, Korea1K)
T=0.0776 (88/1134, Daghestan)
T=0.067 (67/998, GoNL)
T=0.053 (42/792, PRJEB37584)
T=0.019 (12/616, Vietnamese)
T=0.038 (23/600, NorthernSweden)
T=0.076 (42/550, SGDP_PRJ)
T=0.049 (26/534, MGP)
T=0.043 (13/304, FINRISK)
T=0.120 (26/216, Qatari)
T=0.02 (1/56, Siberian)
T=0.12 (5/40, GENOME_DK)
T=0.00 (0/18, Ancient Sardinia)
Clinical Significance
Reported in ClinVar
Gene : Consequence
HADH : Missense Variant
Publications
1 citation
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 359350 T=0.081439 A=0.000000, C=0.918561, G=0.000000
European Sub 304860 T=0.073011 A=0.000000, C=0.926989, G=0.000000
African Sub 13700 T=0.30920 A=0.00000, C=0.69080, G=0.00000
African Others Sub 492 T=0.348 A=0.000, C=0.652, G=0.000
African American Sub 13208 T=0.30777 A=0.00000, C=0.69223, G=0.00000
Asian Sub 6808 T=0.0379 A=0.0000, C=0.9621, G=0.0000
East Asian Sub 4868 T=0.0388 A=0.0000, C=0.9612, G=0.0000
Other Asian Sub 1940 T=0.0356 A=0.0000, C=0.9644, G=0.0000
Latin American 1 Sub 1328 T=0.1416 A=0.0000, C=0.8584, G=0.0000
Latin American 2 Sub 6602 T=0.0382 A=0.0000, C=0.9618, G=0.0000
South Asian Sub 5120 T=0.1082 A=0.0000, C=0.8918, G=0.0000
Other Sub 20932 T=0.07257 A=0.00000, C=0.92743, G=0.00000


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
Allele Frequency Aggregator Total Global 342852 T=0.078325 A=0.000000, C=0.921675, G=0.000000
Allele Frequency Aggregator European Sub 294648 T=0.072761 A=0.000000, C=0.927239, G=0.000000
Allele Frequency Aggregator Other Sub 19480 T=0.06997 A=0.00000, C=0.93003, G=0.00000
Allele Frequency Aggregator African Sub 8866 T=0.3158 A=0.0000, C=0.6842, G=0.0000
Allele Frequency Aggregator Asian Sub 6808 T=0.0379 A=0.0000, C=0.9621, G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 6602 T=0.0382 A=0.0000, C=0.9618, G=0.0000
Allele Frequency Aggregator South Asian Sub 5120 T=0.1082 A=0.0000, C=0.8918, G=0.0000
Allele Frequency Aggregator Latin American 1 Sub 1328 T=0.1416 A=0.0000, C=0.8584, G=0.0000
TopMed Global Study-wide 264690 T=0.140530 C=0.859470
gnomAD - Exomes Global Study-wide 251446 T=0.078776 C=0.921224
gnomAD - Exomes European Sub 135382 T=0.068466 C=0.931534
gnomAD - Exomes Asian Sub 49010 T=0.07390 C=0.92610
gnomAD - Exomes American Sub 34592 T=0.03738 C=0.96262
gnomAD - Exomes African Sub 16248 T=0.30459 C=0.69541
gnomAD - Exomes Ashkenazi Jewish Sub 10078 T=0.02500 C=0.97500
gnomAD - Exomes Other Sub 6136 T=0.0689 C=0.9311
ExAC Global Study-wide 121398 T=0.084952 C=0.915048
ExAC Europe Sub 73348 T=0.06593 C=0.93407
ExAC Asian Sub 25166 T=0.07443 C=0.92557
ExAC American Sub 11578 T=0.03196 C=0.96804
ExAC African Sub 10398 T=0.30429 C=0.69571
ExAC Other Sub 908 T=0.077 C=0.923
The PAGE Study Global Study-wide 78696 T=0.16528 C=0.83472
The PAGE Study AfricanAmerican Sub 32512 T=0.29097 C=0.70903
The PAGE Study Mexican Sub 10810 T=0.04440 C=0.95560
The PAGE Study Asian Sub 8316 T=0.0362 C=0.9638
The PAGE Study PuertoRican Sub 7918 T=0.1268 C=0.8732
The PAGE Study NativeHawaiian Sub 4534 T=0.0379 C=0.9621
The PAGE Study Cuban Sub 4230 T=0.0943 C=0.9057
The PAGE Study Dominican Sub 3828 T=0.1938 C=0.8062
The PAGE Study CentralAmerican Sub 2450 T=0.0665 C=0.9335
The PAGE Study SouthAmerican Sub 1982 T=0.0545 C=0.9455
The PAGE Study NativeAmerican Sub 1260 T=0.0929 C=0.9071
The PAGE Study SouthAsian Sub 856 T=0.071 C=0.929
14KJPN JAPANESE Study-wide 28258 T=0.03482 C=0.96518
8.3KJPN JAPANESE Study-wide 16760 T=0.03473 C=0.96527
GO Exome Sequencing Project Global Study-wide 13006 T=0.15055 C=0.84945
GO Exome Sequencing Project European American Sub 8600 T=0.0763 C=0.9237
GO Exome Sequencing Project African American Sub 4406 T=0.2955 C=0.7045
1000Genomes_30x Global Study-wide 6404 T=0.1373 C=0.8627
1000Genomes_30x African Sub 1786 T=0.3359 C=0.6641
1000Genomes_30x Europe Sub 1266 T=0.0861 C=0.9139
1000Genomes_30x South Asian Sub 1202 T=0.0815 C=0.9185
1000Genomes_30x East Asian Sub 1170 T=0.0222 C=0.9778
1000Genomes_30x American Sub 980 T=0.047 C=0.953
1000Genomes Global Study-wide 5008 T=0.1310 C=0.8690
1000Genomes African Sub 1322 T=0.3343 C=0.6657
1000Genomes East Asian Sub 1008 T=0.0238 C=0.9762
1000Genomes Europe Sub 1006 T=0.0785 C=0.9215
1000Genomes South Asian Sub 978 T=0.079 C=0.921
1000Genomes American Sub 694 T=0.049 C=0.951
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.0799 C=0.9201
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.0799 C=0.9201
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.0836 C=0.9164
KOREAN population from KRGDB KOREAN Study-wide 2928 T=0.0444 A=0.0000, C=0.9556, G=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.0845 C=0.9155
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.036 C=0.964
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.145 C=0.855
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.063 C=0.937
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.056 C=0.944
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.244 C=0.756
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.000 C=1.000
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.00 C=1.00
HapMap Global Study-wide 1890 T=0.1466 C=0.8534
HapMap American Sub 768 T=0.089 C=0.911
HapMap African Sub 692 T=0.263 C=0.737
HapMap Asian Sub 254 T=0.055 C=0.945
HapMap Europe Sub 176 T=0.074 C=0.926
Korean Genome Project KOREAN Study-wide 1832 T=0.0448 C=0.9552
Genome-wide autozygosity in Daghestan Global Study-wide 1134 T=0.0776 C=0.9224
Genome-wide autozygosity in Daghestan Daghestan Sub 626 T=0.083 C=0.917
Genome-wide autozygosity in Daghestan Near_East Sub 144 T=0.076 C=0.924
Genome-wide autozygosity in Daghestan Central Asia Sub 122 T=0.057 C=0.943
Genome-wide autozygosity in Daghestan Europe Sub 108 T=0.074 C=0.926
Genome-wide autozygosity in Daghestan South Asian Sub 98 T=0.07 C=0.93
Genome-wide autozygosity in Daghestan Caucasus Sub 36 T=0.08 C=0.92
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.067 C=0.933
CNV burdens in cranial meningiomas Global Study-wide 792 T=0.053 C=0.947
CNV burdens in cranial meningiomas CRM Sub 792 T=0.053 C=0.947
A Vietnamese Genetic Variation Database Global Study-wide 616 T=0.019 C=0.981
Northern Sweden ACPOP Study-wide 600 T=0.038 C=0.962
SGDP_PRJ Global Study-wide 550 T=0.076 C=0.924
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.049 C=0.951
FINRISK Finnish from FINRISK project Study-wide 304 T=0.043 C=0.957
Qatari Global Study-wide 216 T=0.120 C=0.880
Siberian Global Study-wide 56 T=0.02 C=0.98
The Danish reference pan genome Danish Study-wide 40 T=0.12 C=0.88
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 18 T=0.00 C=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 4 NC_000004.12:g.108009883T>A
GRCh38.p14 chr 4 NC_000004.12:g.108009883T>C
GRCh38.p14 chr 4 NC_000004.12:g.108009883T>G
GRCh37.p13 chr 4 NC_000004.11:g.108931039T>A
GRCh37.p13 chr 4 NC_000004.11:g.108931039T>C
GRCh37.p13 chr 4 NC_000004.11:g.108931039T>G
HADH RefSeqGene NG_008156.2:g.25100C>T
HADH RefSeqGene NG_008156.2:g.25100C>A
HADH RefSeqGene NG_008156.2:g.25100C>G
Gene: HADH, hydroxyacyl-CoA dehydrogenase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
HADH transcript variant 2 NM_005327.7:c.257T>A L [CTT] > H [CAT] Coding Sequence Variant
hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 2 precursor NP_005318.6:p.Leu86His L (Leu) > H (His) Missense Variant
HADH transcript variant 2 NM_005327.7:c.257T>C L [CTT] > P [CCT] Coding Sequence Variant
hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 2 precursor NP_005318.6:p.Leu86Pro L (Leu) > P (Pro) Missense Variant
HADH transcript variant 2 NM_005327.7:c.257T>G L [CTT] > R [CGT] Coding Sequence Variant
hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 2 precursor NP_005318.6:p.Leu86Arg L (Leu) > R (Arg) Missense Variant
HADH transcript variant 1 NM_001184705.4:c.257T>A L [CTT] > H [CAT] Coding Sequence Variant
hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 1 precursor NP_001171634.3:p.Leu86His L (Leu) > H (His) Missense Variant
HADH transcript variant 1 NM_001184705.4:c.257T>C L [CTT] > P [CCT] Coding Sequence Variant
hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 1 precursor NP_001171634.3:p.Leu86Pro L (Leu) > P (Pro) Missense Variant
HADH transcript variant 1 NM_001184705.4:c.257T>G L [CTT] > R [CGT] Coding Sequence Variant
hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 1 precursor NP_001171634.3:p.Leu86Arg L (Leu) > R (Arg) Missense Variant
HADH transcript variant 3 NM_001331027.2:c.269T>A L [CTT] > H [CAT] Coding Sequence Variant
hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 3 NP_001317956.2:p.Leu90His L (Leu) > H (His) Missense Variant
HADH transcript variant 3 NM_001331027.2:c.269T>C L [CTT] > P [CCT] Coding Sequence Variant
hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 3 NP_001317956.2:p.Leu90Pro L (Leu) > P (Pro) Missense Variant
HADH transcript variant 3 NM_001331027.2:c.269T>G L [CTT] > R [CGT] Coding Sequence Variant
hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 3 NP_001317956.2:p.Leu90Arg L (Leu) > R (Arg) Missense Variant
HADH transcript variant X1 XR_007096395.1:n.301T>A N/A Non Coding Transcript Variant
HADH transcript variant X1 XR_007096395.1:n.301T>C N/A Non Coding Transcript Variant
HADH transcript variant X1 XR_007096395.1:n.301T>G 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.

Allele: T= (allele ID: 452829 )
ClinVar Accession Disease Names Clinical Significance
RCV000530765.7 Deficiency of 3-hydroxyacyl-CoA dehydrogenase Benign
Allele: C (allele ID: 177759 )
ClinVar Accession Disease Names Clinical Significance
RCV000153344.4 not specified Benign
RCV001513868.3 Deficiency of 3-hydroxyacyl-CoA dehydrogenase 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 T= A C G
GRCh38.p14 chr 4 NC_000004.12:g.108009883= NC_000004.12:g.108009883T>A NC_000004.12:g.108009883T>C NC_000004.12:g.108009883T>G
GRCh37.p13 chr 4 NC_000004.11:g.108931039= NC_000004.11:g.108931039T>A NC_000004.11:g.108931039T>C NC_000004.11:g.108931039T>G
HADH RefSeqGene NG_008156.2:g.25100C>T NG_008156.2:g.25100C>A NG_008156.2:g.25100= NG_008156.2:g.25100C>G
HADH transcript variant 2 NM_005327.4:c.257C>T NM_005327.4:c.257C>A NM_005327.4:c.257= NM_005327.4:c.257C>G
HADH transcript variant 2 NM_005327.7:c.257= NM_005327.7:c.257T>A NM_005327.7:c.257T>C NM_005327.7:c.257T>G
HADH transcript variant 2 NM_005327.6:c.257C>T NM_005327.6:c.257C>A NM_005327.6:c.257= NM_005327.6:c.257C>G
HADH transcript variant 2 NM_005327.5:c.257= NM_005327.5:c.257T>A NM_005327.5:c.257T>C NM_005327.5:c.257T>G
HADH transcript variant 1 NM_001184705.2:c.257C>T NM_001184705.2:c.257C>A NM_001184705.2:c.257= NM_001184705.2:c.257C>G
HADH transcript variant 1 NM_001184705.4:c.257= NM_001184705.4:c.257T>A NM_001184705.4:c.257T>C NM_001184705.4:c.257T>G
HADH transcript variant 1 NM_001184705.3:c.257C>T NM_001184705.3:c.257C>A NM_001184705.3:c.257= NM_001184705.3:c.257C>G
HADH transcript variant 3 NM_001331027.1:c.269C>T NM_001331027.1:c.269C>A NM_001331027.1:c.269= NM_001331027.1:c.269C>G
HADH transcript variant 3 NM_001331027.2:c.269= NM_001331027.2:c.269T>A NM_001331027.2:c.269T>C NM_001331027.2:c.269T>G
HADH transcript variant X1 XR_007096395.1:n.301= XR_007096395.1:n.301T>A XR_007096395.1:n.301T>C XR_007096395.1:n.301T>G
hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 2 precursor NP_005318.6:p.Leu86= NP_005318.6:p.Leu86His NP_005318.6:p.Leu86Pro NP_005318.6:p.Leu86Arg
hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 1 precursor NP_001171634.3:p.Leu86= NP_001171634.3:p.Leu86His NP_001171634.3:p.Leu86Pro NP_001171634.3:p.Leu86Arg
hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 3 NP_001317956.2:p.Leu90= NP_001317956.2:p.Leu90His NP_001317956.2:p.Leu90Pro NP_001317956.2:p.Leu90Arg
hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 1 precursor NP_001171634.2:p.Pro86Leu NP_001171634.2:p.Pro86His NP_001171634.2:p.Pro86= NP_001171634.2:p.Pro86Arg
hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 2 precursor NP_005318.3:p.Pro86Leu NP_005318.3:p.Pro86His NP_005318.3:p.Pro86= NP_005318.3:p.Pro86Arg
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#.

190 SubSNP, 31 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss6858082 Feb 20, 2003 (111)
2 BCM_SSAHASNP ss10158514 Jul 11, 2003 (116)
3 CSHL-HAPMAP ss17022119 Feb 27, 2004 (120)
4 SSAHASNP ss22048989 Apr 05, 2004 (123)
5 PERLEGEN ss23719514 Sep 20, 2004 (123)
6 MGC_GENOME_DIFF ss28510302 Sep 24, 2004 (126)
7 APPLERA_GI ss48417852 Mar 11, 2006 (126)
8 ILLUMINA ss65728572 Oct 16, 2006 (127)
9 ILLUMINA ss66685597 Dec 02, 2006 (127)
10 ILLUMINA ss67404442 Dec 02, 2006 (127)
11 ILLUMINA ss67772265 Dec 02, 2006 (127)
12 PERLEGEN ss68907529 May 18, 2007 (127)
13 ILLUMINA ss70838972 May 23, 2008 (130)
14 ILLUMINA ss71422602 May 18, 2007 (127)
15 AFFY ss74811655 Aug 16, 2007 (128)
16 ILLUMINA ss75584131 Dec 07, 2007 (129)
17 HGSV ss77207430 Dec 07, 2007 (129)
18 HGSV ss78102192 Dec 07, 2007 (129)
19 ILLUMINA ss79204346 Dec 14, 2007 (130)
20 KRIBB_YJKIM ss84410208 Dec 14, 2007 (130)
21 BCMHGSC_JDW ss92721798 Mar 24, 2008 (129)
22 HUMANGENOME_JCVI ss98851807 Feb 04, 2009 (130)
23 BGI ss105851366 Feb 04, 2009 (130)
24 1000GENOMES ss108211412 Jan 23, 2009 (130)
25 1000GENOMES ss110373424 Jan 24, 2009 (130)
26 ILLUMINA ss122441996 Dec 01, 2009 (131)
27 ENSEMBL ss139808482 Dec 01, 2009 (131)
28 ENSEMBL ss144301027 Dec 01, 2009 (131)
29 ILLUMINA ss154332092 Dec 01, 2009 (131)
30 GMI ss157714186 Dec 01, 2009 (131)
31 ILLUMINA ss159508575 Dec 01, 2009 (131)
32 SEATTLESEQ ss159708219 Dec 01, 2009 (131)
33 ILLUMINA ss160732340 Dec 01, 2009 (131)
34 COMPLETE_GENOMICS ss162421956 Jul 04, 2010 (132)
35 COMPLETE_GENOMICS ss164025488 Jul 04, 2010 (132)
36 COMPLETE_GENOMICS ss167004493 Jul 04, 2010 (132)
37 ILLUMINA ss171993544 Jul 04, 2010 (132)
38 ILLUMINA ss173890879 Jul 04, 2010 (132)
39 BUSHMAN ss198991284 Jul 04, 2010 (132)
40 BCM-HGSC-SUB ss206287093 Jul 04, 2010 (132)
41 1000GENOMES ss221129601 Jul 14, 2010 (132)
42 1000GENOMES ss232537086 Jul 14, 2010 (132)
43 1000GENOMES ss239796060 Jul 15, 2010 (132)
44 BL ss253409667 May 09, 2011 (134)
45 GMI ss277865458 May 04, 2012 (137)
46 GMI ss284977918 Apr 25, 2013 (138)
47 PJP ss293157893 May 09, 2011 (134)
48 NHLBI-ESP ss342169289 May 09, 2011 (134)
49 ILLUMINA ss410937944 Sep 17, 2011 (135)
50 ILLUMINA ss481114998 May 04, 2012 (137)
51 ILLUMINA ss481137000 May 04, 2012 (137)
52 ILLUMINA ss482126681 Sep 08, 2015 (146)
53 ILLUMINA ss485352563 May 04, 2012 (137)
54 1000GENOMES ss490892799 May 04, 2012 (137)
55 EXOME_CHIP ss491359386 May 04, 2012 (137)
56 CLINSEQ_SNP ss491858411 May 04, 2012 (137)
57 ILLUMINA ss537298770 Sep 08, 2015 (146)
58 TISHKOFF ss557757820 Apr 25, 2013 (138)
59 SSMP ss651559549 Apr 25, 2013 (138)
60 ILLUMINA ss778926405 Aug 21, 2014 (142)
61 ILLUMINA ss780831515 Sep 08, 2015 (146)
62 ILLUMINA ss783122003 Aug 21, 2014 (142)
63 ILLUMINA ss783514479 Sep 08, 2015 (146)
64 ILLUMINA ss784078761 Aug 21, 2014 (142)
65 ILLUMINA ss825534864 Apr 01, 2015 (144)
66 ILLUMINA ss832380795 Apr 01, 2015 (144)
67 ILLUMINA ss833019900 Aug 21, 2014 (142)
68 ILLUMINA ss833610728 Aug 21, 2014 (142)
69 ILLUMINA ss834387889 Aug 21, 2014 (142)
70 JMKIDD_LAB ss974453614 Aug 21, 2014 (142)
71 EVA-GONL ss980515334 Aug 21, 2014 (142)
72 JMKIDD_LAB ss1067463488 Aug 21, 2014 (142)
73 JMKIDD_LAB ss1071833076 Aug 21, 2014 (142)
74 1000GENOMES ss1311215404 Aug 21, 2014 (142)
75 HAMMER_LAB ss1397384954 Sep 08, 2015 (146)
76 DDI ss1430000553 Apr 01, 2015 (144)
77 EVA_GENOME_DK ss1580710630 Apr 01, 2015 (144)
78 EVA_FINRISK ss1584035755 Apr 01, 2015 (144)
79 EVA_DECODE ss1590020104 Apr 01, 2015 (144)
80 EVA_UK10K_ALSPAC ss1610864457 Apr 01, 2015 (144)
81 EVA_UK10K_TWINSUK ss1653858490 Apr 01, 2015 (144)
82 EVA_EXAC ss1687599990 Apr 01, 2015 (144)
83 EVA_MGP ss1711068525 Apr 01, 2015 (144)
84 EVA_SVP ss1712696934 Apr 01, 2015 (144)
85 ILLUMINA ss1752491592 Sep 08, 2015 (146)
86 ILLUMINA ss1752491593 Sep 08, 2015 (146)
87 HAMMER_LAB ss1801988514 Sep 08, 2015 (146)
88 ILLUMINA ss1917783575 Feb 12, 2016 (147)
89 WEILL_CORNELL_DGM ss1923752486 Feb 12, 2016 (147)
90 ILLUMINA ss1946124234 Feb 12, 2016 (147)
91 ILLUMINA ss1958710991 Feb 12, 2016 (147)
92 AMU ss1966655531 Feb 12, 2016 (147)
93 GENOMED ss1969830107 Jul 19, 2016 (147)
94 JJLAB ss2022460748 Sep 14, 2016 (149)
95 USC_VALOUEV ss2150590319 Dec 20, 2016 (150)
96 HUMAN_LONGEVITY ss2265919587 Dec 20, 2016 (150)
97 SYSTEMSBIOZJU ss2625727490 Nov 08, 2017 (151)
98 ILLUMINA ss2634161014 Nov 08, 2017 (151)
99 GRF ss2706068355 Nov 08, 2017 (151)
100 GNOMAD ss2734675860 Nov 08, 2017 (151)
101 GNOMAD ss2747286369 Nov 08, 2017 (151)
102 GNOMAD ss2813538290 Nov 08, 2017 (151)
103 AFFY ss2985300040 Nov 08, 2017 (151)
104 SWEGEN ss2995307040 Nov 08, 2017 (151)
105 ILLUMINA ss3022403320 Nov 08, 2017 (151)
106 BIOINF_KMB_FNS_UNIBA ss3025005751 Nov 08, 2017 (151)
107 CSHL ss3345888685 Nov 08, 2017 (151)
108 ILLUMINA ss3629036942 Oct 12, 2018 (152)
109 ILLUMINA ss3629036943 Oct 12, 2018 (152)
110 ILLUMINA ss3632095007 Oct 12, 2018 (152)
111 ILLUMINA ss3633344923 Oct 12, 2018 (152)
112 ILLUMINA ss3634064280 Oct 12, 2018 (152)
113 ILLUMINA ss3634965505 Oct 12, 2018 (152)
114 ILLUMINA ss3634965506 Oct 12, 2018 (152)
115 ILLUMINA ss3635746974 Oct 12, 2018 (152)
116 ILLUMINA ss3636670034 Oct 12, 2018 (152)
117 ILLUMINA ss3637499517 Oct 12, 2018 (152)
118 ILLUMINA ss3638504685 Oct 12, 2018 (152)
119 ILLUMINA ss3639254583 Oct 12, 2018 (152)
120 ILLUMINA ss3639648805 Oct 12, 2018 (152)
121 ILLUMINA ss3640672798 Oct 12, 2018 (152)
122 ILLUMINA ss3640672799 Oct 12, 2018 (152)
123 ILLUMINA ss3643454669 Oct 12, 2018 (152)
124 ILLUMINA ss3644857041 Oct 12, 2018 (152)
125 OMUKHERJEE_ADBS ss3646311216 Oct 12, 2018 (152)
126 URBANLAB ss3647813933 Oct 12, 2018 (152)
127 ILLUMINA ss3652890795 Oct 12, 2018 (152)
128 ILLUMINA ss3654072028 Oct 12, 2018 (152)
129 EGCUT_WGS ss3663206706 Jul 13, 2019 (153)
130 EVA_DECODE ss3712771891 Jul 13, 2019 (153)
131 ILLUMINA ss3726160019 Jul 13, 2019 (153)
132 ACPOP ss3731473732 Jul 13, 2019 (153)
133 ILLUMINA ss3744528576 Jul 13, 2019 (153)
134 ILLUMINA ss3745265767 Jul 13, 2019 (153)
135 ILLUMINA ss3745265768 Jul 13, 2019 (153)
136 EVA ss3762233691 Jul 13, 2019 (153)
137 PAGE_CC ss3771145776 Jul 13, 2019 (153)
138 ILLUMINA ss3772760278 Jul 13, 2019 (153)
139 ILLUMINA ss3772760279 Jul 13, 2019 (153)
140 PACBIO ss3784816373 Jul 13, 2019 (153)
141 PACBIO ss3790258659 Jul 13, 2019 (153)
142 PACBIO ss3795134023 Jul 13, 2019 (153)
143 KHV_HUMAN_GENOMES ss3805382297 Jul 13, 2019 (153)
144 EVA ss3824038332 Apr 26, 2020 (154)
145 EVA ss3825662563 Apr 26, 2020 (154)
146 EVA ss3828731241 Apr 26, 2020 (154)
147 EVA ss3837807377 Apr 26, 2020 (154)
148 EVA ss3843246062 Apr 26, 2020 (154)
149 HGDP ss3847760529 Apr 26, 2020 (154)
150 SGDP_PRJ ss3859732759 Apr 26, 2020 (154)
151 KRGDB ss3906018221 Apr 26, 2020 (154)
152 KOGIC ss3954844790 Apr 26, 2020 (154)
153 FSA-LAB ss3984291253 Apr 26, 2021 (155)
154 FSA-LAB ss3984291254 Apr 26, 2021 (155)
155 EVA ss3984533009 Apr 26, 2021 (155)
156 EVA ss3985088192 Apr 26, 2021 (155)
157 EVA ss3986028423 Apr 26, 2021 (155)
158 EVA ss3986288710 Apr 26, 2021 (155)
159 TOPMED ss4626756707 Apr 26, 2021 (155)
160 TOMMO_GENOMICS ss5167335313 Apr 26, 2021 (155)
161 EVA ss5237008304 Apr 26, 2021 (155)
162 EVA ss5237183157 Apr 26, 2021 (155)
163 EVA ss5237642638 Oct 13, 2022 (156)
164 1000G_HIGH_COVERAGE ss5260492814 Oct 13, 2022 (156)
165 TRAN_CS_UWATERLOO ss5314411199 Oct 13, 2022 (156)
166 EVA ss5314981109 Oct 13, 2022 (156)
167 EVA ss5351348445 Oct 13, 2022 (156)
168 HUGCELL_USP ss5459112012 Oct 13, 2022 (156)
169 EVA ss5507666358 Oct 13, 2022 (156)
170 1000G_HIGH_COVERAGE ss5542270106 Oct 13, 2022 (156)
171 EVA ss5623930255 Oct 13, 2022 (156)
172 EVA ss5624141832 Oct 13, 2022 (156)
173 SANFORD_IMAGENETICS ss5624564092 Oct 13, 2022 (156)
174 SANFORD_IMAGENETICS ss5635782094 Oct 13, 2022 (156)
175 TOMMO_GENOMICS ss5702139597 Oct 13, 2022 (156)
176 EVA ss5799623576 Oct 13, 2022 (156)
177 EVA ss5800053189 Oct 13, 2022 (156)
178 EVA ss5800117384 Oct 13, 2022 (156)
179 YY_MCH ss5805401778 Oct 13, 2022 (156)
180 EVA ss5844503756 Oct 13, 2022 (156)
181 EVA ss5847248663 Oct 13, 2022 (156)
182 EVA ss5848020920 Oct 13, 2022 (156)
183 EVA ss5848614679 Oct 13, 2022 (156)
184 EVA ss5854378305 Oct 13, 2022 (156)
185 EVA ss5864911507 Oct 13, 2022 (156)
186 EVA ss5936525474 Oct 13, 2022 (156)
187 EVA ss5964180742 Oct 13, 2022 (156)
188 EVA ss5979710426 Oct 13, 2022 (156)
189 EVA ss5980242664 Oct 13, 2022 (156)
190 EVA ss5981224041 Oct 13, 2022 (156)
191 1000Genomes NC_000004.11 - 108931039 Oct 12, 2018 (152)
192 1000Genomes_30x NC_000004.12 - 108009883 Oct 13, 2022 (156)
193 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 108931039 Oct 12, 2018 (152)
194 Genome-wide autozygosity in Daghestan NC_000004.10 - 109150488 Apr 26, 2020 (154)
195 Genetic variation in the Estonian population NC_000004.11 - 108931039 Oct 12, 2018 (152)
196 ExAC NC_000004.11 - 108931039 Oct 12, 2018 (152)
197 FINRISK NC_000004.11 - 108931039 Apr 26, 2020 (154)
198 The Danish reference pan genome NC_000004.11 - 108931039 Apr 26, 2020 (154)
199 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 160587335 (NC_000004.12:108009882:T:C 120556/140004)
Row 160587336 (NC_000004.12:108009882:T:G 1/140036)

- Apr 26, 2021 (155)
200 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 160587335 (NC_000004.12:108009882:T:C 120556/140004)
Row 160587336 (NC_000004.12:108009882:T:G 1/140036)

- Apr 26, 2021 (155)
201 gnomAD - Exomes NC_000004.11 - 108931039 Jul 13, 2019 (153)
202 GO Exome Sequencing Project NC_000004.11 - 108931039 Oct 12, 2018 (152)
203 Genome of the Netherlands Release 5 NC_000004.11 - 108931039 Apr 26, 2020 (154)
204 HGDP-CEPH-db Supplement 1 NC_000004.10 - 109150488 Apr 26, 2020 (154)
205 HapMap NC_000004.12 - 108009883 Apr 26, 2020 (154)
206 KOREAN population from KRGDB NC_000004.11 - 108931039 Apr 26, 2020 (154)
207 Korean Genome Project NC_000004.12 - 108009883 Apr 26, 2020 (154)
208 Medical Genome Project healthy controls from Spanish population NC_000004.11 - 108931039 Apr 26, 2020 (154)
209 Northern Sweden NC_000004.11 - 108931039 Jul 13, 2019 (153)
210 The PAGE Study NC_000004.12 - 108009883 Jul 13, 2019 (153)
211 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000004.11 - 108931039 Apr 26, 2021 (155)
212 CNV burdens in cranial meningiomas NC_000004.11 - 108931039 Apr 26, 2021 (155)
213 Qatari NC_000004.11 - 108931039 Apr 26, 2020 (154)
214 SGDP_PRJ NC_000004.11 - 108931039 Apr 26, 2020 (154)
215 Siberian NC_000004.11 - 108931039 Apr 26, 2020 (154)
216 8.3KJPN NC_000004.11 - 108931039 Apr 26, 2021 (155)
217 14KJPN NC_000004.12 - 108009883 Oct 13, 2022 (156)
218 TopMed NC_000004.12 - 108009883 Apr 26, 2021 (155)
219 UK 10K study - Twins NC_000004.11 - 108931039 Oct 12, 2018 (152)
220 A Vietnamese Genetic Variation Database NC_000004.11 - 108931039 Jul 13, 2019 (153)
221 ALFA NC_000004.12 - 108009883 Apr 26, 2021 (155)
222 ClinVar RCV000153344.4 Oct 13, 2022 (156)
223 ClinVar RCV000530765.7 Oct 13, 2022 (156)
224 ClinVar RCV001513868.3 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).

Associated ID History Updated (Build)
rs13104939 Sep 24, 2004 (123)
rs17038377 Oct 07, 2004 (123)
rs17856000 Mar 11, 2006 (126)
rs52826871 Sep 21, 2007 (128)
rs57080615 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
13195615, ss3906018221 NC_000004.11:108931038:T:A NC_000004.12:108009882:T:A (self)
1525339294 NC_000004.12:108009882:T:A NC_000004.12:108009882:T:A (self)
ss77207430, ss78102192, ss3639254583, ss3639648805 NC_000004.9:109288642:T:C NC_000004.12:108009882:T:C (self)
360333, 438421, ss92721798, ss108211412, ss110373424, ss160732340, ss162421956, ss164025488, ss167004493, ss198991284, ss206287093, ss253409667, ss277865458, ss284977918, ss293157893, ss410937944, ss481114998, ss491858411, ss825534864, ss1397384954, ss1590020104, ss1712696934, ss3643454669, ss3847760529 NC_000004.10:109150487:T:C NC_000004.12:108009882:T:C (self)
22666495, 12612687, 8944954, 7573509, 32216, 6875569, 3784253, 496528, 5577461, 13195615, 184285, 4758597, 314119, 82370, 5794416, 11749739, 3106673, 25304620, 12612687, 2771690, ss221129601, ss232537086, ss239796060, ss342169289, ss481137000, ss482126681, ss485352563, ss490892799, ss491359386, ss537298770, ss557757820, ss651559549, ss778926405, ss780831515, ss783122003, ss783514479, ss784078761, ss832380795, ss833019900, ss833610728, ss834387889, ss974453614, ss980515334, ss1067463488, ss1071833076, ss1311215404, ss1430000553, ss1580710630, ss1584035755, ss1610864457, ss1653858490, ss1687599990, ss1711068525, ss1752491592, ss1752491593, ss1801988514, ss1917783575, ss1923752486, ss1946124234, ss1958710991, ss1966655531, ss1969830107, ss2022460748, ss2150590319, ss2625727490, ss2634161014, ss2706068355, ss2734675860, ss2747286369, ss2813538290, ss2985300040, ss2995307040, ss3022403320, ss3345888685, ss3629036942, ss3629036943, ss3632095007, ss3633344923, ss3634064280, ss3634965505, ss3634965506, ss3635746974, ss3636670034, ss3637499517, ss3638504685, ss3640672798, ss3640672799, ss3644857041, ss3646311216, ss3652890795, ss3654072028, ss3663206706, ss3731473732, ss3744528576, ss3745265767, ss3745265768, ss3762233691, ss3772760278, ss3772760279, ss3784816373, ss3790258659, ss3795134023, ss3824038332, ss3825662563, ss3828731241, ss3837807377, ss3859732759, ss3906018221, ss3984291253, ss3984291254, ss3984533009, ss3985088192, ss3986028423, ss3986288710, ss5167335313, ss5314981109, ss5351348445, ss5507666358, ss5623930255, ss5624141832, ss5624564092, ss5635782094, ss5799623576, ss5800053189, ss5800117384, ss5844503756, ss5847248663, ss5848020920, ss5848614679, ss5936525474, ss5964180742, ss5979710426, ss5980242664, ss5981224041 NC_000004.11:108931038:T:C NC_000004.12:108009882:T:C (self)
RCV000153344.4, RCV001513868.3, 29796041, 2680766, 11222791, 367245, 35976701, 464134263, 1525339294, ss2265919587, ss3025005751, ss3647813933, ss3712771891, ss3726160019, ss3771145776, ss3805382297, ss3843246062, ss3954844790, ss4626756707, ss5237008304, ss5237183157, ss5237642638, ss5260492814, ss5314411199, ss5459112012, ss5542270106, ss5702139597, ss5805401778, ss5854378305, ss5864911507 NC_000004.12:108009882:T:C NC_000004.12:108009882:T:C (self)
ss10158514 NT_016354.15:33426168:T:C NC_000004.12:108009882:T:C (self)
ss17022119, ss22048989 NT_016354.16:33426168:T:C NC_000004.12:108009882:T:C (self)
ss6858082, ss23719514, ss28510302, ss48417852, ss65728572, ss66685597, ss67404442, ss67772265, ss68907529, ss70838972, ss71422602, ss74811655, ss75584131, ss79204346, ss84410208, ss98851807, ss105851366, ss122441996, ss139808482, ss144301027, ss154332092, ss157714186, ss159508575, ss159708219, ss171993544, ss173890879 NT_016354.19:33478759:T:C NC_000004.12:108009882:T:C (self)
13195615, ss3906018221 NC_000004.11:108931038:T:G NC_000004.12:108009882:T:G (self)
1525339294 NC_000004.12:108009882:T:G NC_000004.12:108009882:T:G (self)
Help

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

1 citation for rs4956145
PMID Title Author Year Journal
26740944 Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients. Fan ZC et al. 2015 Molecular genetics & genomic medicine
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