rs911620

Homo sapiens
T>C
SAMD4A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0049 (1484/29962,GnomAD)
T==0056 (1648/29118,TOPMED)
T==0040 (201/5008,1000G)
T==0040 (154/3854,ALSPAC)
T==0043 (158/3708,TWINSUK)
chr14:54658981 (GRCh38.p7) (14q22.2)
ND
GWASdb2
1   publication(s)
See rs on genome
237 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.54658981T>C
GRCh37.p13 chr 14NC_000014.8:g.55125699T>C

Gene: SAMD4A, sterile alpha motif domain containing 4A(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SAMD4A transcript variant 2NM_001161576.2:c.N/AIntron Variant
SAMD4A transcript variant 1NM_015589.5:c.N/AIntron Variant
SAMD4A transcript variant 3NM_001161577.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.078C=0.922
1000GenomesAmericanSub694T=0.050C=0.950
1000GenomesEast AsianSub1008T=0.000C=1.000
1000GenomesEuropeSub1006T=0.051C=0.949
1000GenomesGlobalStudy-wide5008T=0.040C=0.960
1000GenomesSouth AsianSub978T=0.010C=0.990
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.040C=0.960
The Genome Aggregation DatabaseAfricanSub8724T=0.066C=0.934
The Genome Aggregation DatabaseAmericanSub836T=0.030C=0.970
The Genome Aggregation DatabaseEast AsianSub1622T=0.000C=1.000
The Genome Aggregation DatabaseEuropeSub18478T=0.045C=0.954
The Genome Aggregation DatabaseGlobalStudy-wide29962T=0.049C=0.950
The Genome Aggregation DatabaseOtherSub302T=0.110C=0.890
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.056C=0.943
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.043C=0.957
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs9116200.00096nicotine smoking19268276

eQTL of rs911620 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs911620 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr145509541855096060E067-29639
chr145509616055096301E067-29398
chr145509640855096770E067-28929
chr145512171255121762E067-3937
chr145514210155142950E06716402
chr145514339655144743E06717697
chr145515222555154829E06726526
chr145507710155077202E068-48497
chr145507721955077298E068-48401
chr145507736055077591E068-48108
chr145507794155078150E068-47549
chr145507819555078269E068-47430
chr145509033155090608E068-35091
chr145509640855096770E068-28929
chr145509677555097093E068-28606
chr145510596255106107E068-19592
chr145510614755106306E068-19393
chr145510633455106614E068-19085
chr145510663955106720E068-18979
chr145510677455106880E068-18819
chr145510700655107162E068-18537
chr145510722955107784E068-17915
chr145510924955109309E068-16390
chr145511542155115510E068-10189
chr145511573055116404E068-9295
chr145511647455116540E068-9159
chr145511659255116646E068-9053
chr145511675655120017E068-5682
chr145512031455120430E068-5269
chr145512048555121654E068-4045
chr145513444855134539E0688749
chr145513456055134907E0688861
chr145513949855139777E06813799
chr145513981255141388E06814113
chr145514161455141755E06815915
chr145514210155142950E06816402
chr145514339655144743E06817697
chr145515043055151697E06824731
chr145515197155152171E06826272
chr145515222555154829E06826526
chr145515722855159630E06831529
chr145516504755165606E06839348
chr145516565555165731E06839956
chr145516582355166243E06840124
chr145517434155174486E06848642
chr145517456255174747E06848863
chr145517493855175122E06849239
chr145507710155077202E069-48497
chr145507721955077298E069-48401
chr145507736055077591E069-48108
chr145507794155078150E069-47549
chr145507819555078269E069-47430
chr145509255155093051E069-32648
chr145509306355093457E069-32242
chr145509541855096060E069-29639
chr145509677555097093E069-28606
chr145509712155097528E069-28171
chr145513949855139777E06913799
chr145513981255141388E06914113
chr145514210155142950E06916402
chr145514339655144743E06917697
chr145514484155145116E06919142
chr145515043055151697E06924731
chr145515197155152171E06926272
chr145515222555154829E06926526
chr145515498255155334E06929283
chr145517434155174486E06948642
chr145517456255174747E06948863
chr145517493855175122E06949239
chr145517512655175299E06949427
chr145509118055091491E070-34208
chr145513899555139239E07013296
chr145513949855139777E07013799
chr145513981255141388E07014113
chr145514339655144743E07017697
chr145514484155145116E07019142
chr145514624655146286E07020547
chr145515222555154829E07026526
chr145515498255155334E07029283
chr145516292255163298E07037223
chr145516360055164362E07037901
chr145507794155078150E071-47549
chr145507819555078269E071-47430
chr145509161455092407E071-33292
chr145509255155093051E071-32648
chr145509306355093457E071-32242
chr145509350855093619E071-32080
chr145509364455093787E071-31912
chr145509541855096060E071-29639
chr145509640855096770E071-28929
chr145510596255106107E071-19592
chr145510614755106306E071-19393
chr145510633455106614E071-19085
chr145510663955106720E071-18979
chr145510677455106880E071-18819
chr145510700655107162E071-18537
chr145510722955107784E071-17915
chr145510785555107915E071-17784
chr145512048555121654E071-4045
chr145513444855134539E0718749
chr145513456055134907E0718861
chr145514210155142950E07116402
chr145514339655144743E07117697
chr145514484155145116E07119142
chr145515043055151697E07124731
chr145515197155152171E07126272
chr145516504755165606E07139348
chr145516565555165731E07139956
chr145516582355166243E07140124
chr145517456255174747E07148863
chr145517493855175122E07149239
chr145517512655175299E07149427
chr145507736055077591E072-48108
chr145507794155078150E072-47549
chr145507819555078269E072-47430
chr145509306355093457E072-32242
chr145509350855093619E072-32080
chr145509364455093787E072-31912
chr145513385655134013E0728157
chr145513408555134288E0728386
chr145513433155134396E0728632
chr145513981255141388E07214113
chr145514339655144743E07217697
chr145515197155152171E07226272
chr145515222555154829E07226526
chr145516446055164987E07238761
chr145516504755165606E07239348
chr145516565555165731E07239956
chr145517434155174486E07248642
chr145517456255174747E07248863
chr145510938555110843E073-14856
chr145511481855114862E073-10837
chr145511488055114961E073-10738
chr145511500655115133E073-10566
chr145512171255121762E073-3937
chr145512177055121838E073-3861
chr145512935855129433E0733659
chr145512945255129871E0733753
chr145513408555134288E0738386
chr145513433155134396E0738632
chr145513444855134539E0738749
chr145513456055134907E0738861
chr145513746055137626E07311761
chr145513789555137990E07312196
chr145513829255138598E07312593
chr145513949855139777E07313799
chr145513981255141388E07314113
chr145514210155142950E07316402
chr145514339655144743E07317697
chr145514484155145116E07319142
chr145515043055151697E07324731
chr145515197155152171E07326272
chr145515222555154829E07326526
chr145507794155078150E074-47549
chr145507819555078269E074-47430
chr145507867055078785E074-46914
chr145507879255078865E074-46834
chr145509255155093051E074-32648
chr145509306355093457E074-32242
chr145509350855093619E074-32080
chr145509364455093787E074-31912
chr145509541855096060E074-29639
chr145509616055096301E074-29398
chr145510413555104235E074-21464
chr145510424555104428E074-21271
chr145510455555105226E074-20473
chr145510596255106107E074-19592
chr145510614755106306E074-19393
chr145510633455106614E074-19085
chr145510663955106720E074-18979
chr145510677455106880E074-18819
chr145510700655107162E074-18537
chr145510722955107784E074-17915
chr145510785555107915E074-17784
chr145510799755108510E074-17189
chr145510895755109047E074-16652
chr145510905055109115E074-16584
chr145510924955109309E074-16390
chr145510938555110843E074-14856
chr145511456055114639E074-11060
chr145511481855114862E074-10837
chr145511488055114961E074-10738
chr145511500655115133E074-10566
chr145512171255121762E074-3937
chr145512177055121838E074-3861
chr145512185955122007E074-3692
chr145513385655134013E0748157
chr145513408555134288E0748386
chr145513433155134396E0748632
chr145513444855134539E0748749
chr145513456055134907E0748861
chr145513746055137626E07411761
chr145513949855139777E07413799
chr145513981255141388E07414113
chr145514210155142950E07416402
chr145514339655144743E07417697
chr145514484155145116E07419142
chr145515197155152171E07426272
chr145516360055164362E07437901
chr145516446055164987E07438761
chr145516504755165606E07439348
chr145516565555165731E07439956
chr145516582355166243E07440124
chr145517434155174486E07448642
chr145517456255174747E07448863
chr145517493855175122E07449239
chr145517512655175299E07449427
chr145509255155093051E081-32648
chr145509541855096060E081-29639
chr145510614755106306E081-19393
chr145510633455106614E081-19085
chr145510663955106720E081-18979
chr145510677455106880E081-18819
chr145510700655107162E081-18537
chr145510722955107784E081-17915
chr145513578955136080E08110090
chr145513619455137268E08110495
chr145513799455138250E08112295
chr145513829255138598E08112593
chr145513881655138903E08113117
chr145513899555139239E08113296
chr145513949855139777E08113799
chr145513981255141388E08114113
chr145514161455141755E08115915
chr145514210155142950E08116402
chr145514339655144743E08117697
chr145510614755106306E082-19393
chr145510633455106614E082-19085
chr145510663955106720E082-18979
chr145510677455106880E082-18819
chr145510700655107162E082-18537
chr145513385655134013E0828157
chr145513619455137268E08210495
chr145513949855139777E08213799
chr145513981255141388E08214113
chr145514210155142950E08216402
chr145514339655144743E08217697