rs4924694

Homo sapiens
T>A
STARD9 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0255 (7623/29898,GnomAD)
A=0279 (8137/29118,TOPMED)
A=0263 (1315/5008,1000G)
A=0183 (705/3854,ALSPAC)
A=0181 (671/3708,TWINSUK)
chr15:42698868 (GRCh38.p7) (15q15.2)
AD
GWASdb2
1   publication(s)
See rs on genome
126 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.42698868T>A
GRCh37.p13 chr 15NC_000015.9:g.42991066T>A

Gene: STARD9, StAR related lipid transfer domain containing 9(plus strand)

Molecule type Change Amino acid[Codon] SO Term
STARD9 transcriptNM_020759.2:c.N/AIntron Variant
STARD9 transcript variant X1XM_011521831.2:c.N/AIntron Variant
STARD9 transcript variant X2XM_011521832.2:c.N/AIntron Variant
STARD9 transcript variant X3XM_011521833.2:c.N/AIntron Variant
STARD9 transcript variant X4XM_011521834.2:c.N/AIntron Variant
STARD9 transcript variant X6XM_011521835.2:c.N/AIntron Variant
STARD9 transcript variant X7XM_011521836.2:c.N/AIntron Variant
STARD9 transcript variant X10XM_011521837.2:c.N/AIntron Variant
STARD9 transcript variant X14XM_011521839.2:c.N/AIntron Variant
STARD9 transcript variant X5XM_017022439.1:c.N/AIntron Variant
STARD9 transcript variant X8XM_017022440.1:c.N/AIntron Variant
STARD9 transcript variant X9XM_017022441.1:c.N/AIntron Variant
STARD9 transcript variant X11XM_017022442.1:c.N/AIntron Variant
STARD9 transcript variant X12XM_017022443.1:c.N/AIntron Variant
STARD9 transcript variant X13XR_931874.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.516A=0.484
1000GenomesAmericanSub694T=0.870A=0.130
1000GenomesEast AsianSub1008T=0.949A=0.051
1000GenomesEuropeSub1006T=0.820A=0.180
1000GenomesGlobalStudy-wide5008T=0.737A=0.263
1000GenomesSouth AsianSub978T=0.640A=0.360
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.817A=0.183
The Genome Aggregation DatabaseAfricanSub8688T=0.578A=0.422
The Genome Aggregation DatabaseAmericanSub836T=0.870A=0.130
The Genome Aggregation DatabaseEast AsianSub1620T=0.949A=0.051
The Genome Aggregation DatabaseEuropeSub18452T=0.800A=0.199
The Genome Aggregation DatabaseGlobalStudy-wide29898T=0.745A=0.255
The Genome Aggregation DatabaseOtherSub302T=0.720A=0.280
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.720A=0.279
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.819A=0.181
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs49246940.000932alcohol dependence21314694

eQTL of rs4924694 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr15:42991066CDAN1ENSG00000140326.8T>A3.8238e-9-38258Cerebellum
Chr15:42991066CDAN1ENSG00000140326.8T>A3.3924e-3-38258Hippocampus

meQTL of rs4924694 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 )
chr154296478842964838E067-26228
chr154296980142969851E067-21215
chr154297004242970317E067-20749
chr154297053242970634E067-20432
chr154297067042970996E067-20070
chr154297120242971256E067-19810
chr154297127042971405E067-19661
chr154297141042971764E067-19302
chr154301928443019340E06728218
chr154301979743020019E06728731
chr154302004243020199E06728976
chr154302020443020422E06729138
chr154302046943020519E06729403
chr154302084643021001E06729780
chr154302706243027228E06735996
chr154302726143027305E06736195
chr154302735843027506E06736292
chr154302762243027761E06736556
chr154302780543027893E06736739
chr154296359042963964E068-27102
chr154296406642964177E068-26889
chr154296431042964461E068-26605
chr154296980142969851E068-21215
chr154297004242970317E068-20749
chr154302762243027761E06836556
chr154302780543027893E06836739
chr154296431042964461E069-26605
chr154296478842964838E069-26228
chr154296980142969851E069-21215
chr154297004242970317E069-20749
chr154297053242970634E069-20432
chr154297067042970996E069-20070
chr154297120242971256E069-19810
chr154297127042971405E069-19661
chr154297141042971764E069-19302
chr154301928443019340E06928218
chr154301979743020019E06928731
chr154302004243020199E06928976
chr154302020443020422E06929138
chr154302046943020519E06929403
chr154302084643021001E06929780
chr154302780543027893E06936739
chr154302706243027228E07035996
chr154302726143027305E07036195
chr154302735843027506E07036292
chr154302762243027761E07036556
chr154296406642964177E071-26889
chr154296431042964461E071-26605
chr154296478842964838E071-26228
chr154296980142969851E071-21215
chr154297004242970317E071-20749
chr154297053242970634E071-20432
chr154297067042970996E071-20070
chr154297120242971256E071-19810
chr154297127042971405E071-19661
chr154297141042971764E071-19302
chr154302004243020199E07128976
chr154302020443020422E07129138
chr154302046943020519E07129403
chr154302084643021001E07129780
chr154302762243027761E07136556
chr154302780543027893E07136739
chr154303013443030322E07139068
chr154294251742942993E072-48073
chr154296431042964461E072-26605
chr154296478842964838E072-26228
chr154296980142969851E072-21215
chr154297004242970317E072-20749
chr154297053242970634E072-20432
chr154297067042970996E072-20070
chr154297120242971256E072-19810
chr154297127042971405E072-19661
chr154297141042971764E072-19302
chr154299662942997030E0725563
chr154299706442997252E0725998
chr154301979743020019E07228731
chr154302004243020199E07228976
chr154302020443020422E07229138
chr154302046943020519E07229403
chr154302084643021001E07229780
chr154302127943021399E07230213
chr154302147943021713E07230413
chr154302178243021842E07230716
chr154302195143022005E07230885
chr154296980142969851E073-21215
chr154297004242970317E073-20749
chr154297053242970634E073-20432
chr154297067042970996E073-20070
chr154297120242971256E073-19810
chr154297127042971405E073-19661
chr154301882143018898E07327755
chr154301928443019340E07328218
chr154301979743020019E07328731
chr154302004243020199E07328976
chr154302020443020422E07329138
chr154302046943020519E07329403
chr154302616843026229E07335102
chr154302636043026480E07335294
chr154302653443026638E07335468
chr154302664043026696E07335574
chr154302670343026761E07335637
chr154302700943027059E07335943
chr154302706243027228E07335996
chr154302726143027305E07336195
chr154302735843027506E07336292
chr154302762243027761E07336556
chr154302780543027893E07336739
chr154294228842942411E074-48655
chr154294251742942993E074-48073
chr154296359042963964E074-27102
chr154296406642964177E074-26889
chr154296431042964461E074-26605
chr154296478842964838E074-26228
chr154296980142969851E074-21215
chr154297004242970317E074-20749
chr154297053242970634E074-20432
chr154297067042970996E074-20070
chr154297120242971256E074-19810
chr154297127042971405E074-19661
chr154297141042971764E074-19302
chr154302020443020422E07429138
chr154302046943020519E07429403
chr154302762243027761E08136556
chr154302780543027893E08136739
chr154302762243027761E08236556
chr154302780543027893E08236739










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr154302835143030099E06737285
chr154302835143030099E06837285
chr154302835143030099E06937285
chr154302835143030099E07037285
chr154302835143030099E07137285
chr154302835143030099E07237285
chr154302835143030099E07337285
chr154302835143030099E07437285
chr154302835143030099E08137285
chr154302835143030099E08237285