rs7515820

Homo sapiens
A>C
MFSD4A : Synonymous Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0420 (51022/121376,ExAC)
C=0473 (14073/29748,GnomAD)
C=0483 (14069/29118,TOPMED)
A==0492 (6411/13006,GO-ESP)
C=0360 (1802/5008,1000G)
C=0479 (1847/3854,ALSPAC)
C=0476 (1765/3708,TWINSUK)
chr1:205584967 (GRCh38.p7) (1q32.1)
AD
GWASdb2
1   publication(s)
See rs on genome
102 Enhancers around
40 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.205584967A>C
GRCh37.p13 chr 1NC_000001.10:g.205554095A>C

Gene: MFSD4A, major facilitator superfamily domain containing 4A(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MFSD4A transcriptNM_181644.4:c.951A>CV [GTA]> V [GTC]Coding Sequence Variant
major facilitator superfamily domain-containing protein 4ANP_857595.3:p.Val...NP_857595.3:p.Val317=V [Val]> V [Val]Synonymous Variant
MFSD4A transcript variant X1XM_011509229.2:c....XM_011509229.2:c.690A>CV [GTA]> V [GTC]Coding Sequence Variant
major facilitator superfamily domain-containing protein 4A isoform X1XP_011507531.1:p....XP_011507531.1:p.Val230=V [Val]> V [Val]Synonymous Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.453C=0.547
1000GenomesAmericanSub694A=0.600C=0.400
1000GenomesEast AsianSub1008A=0.938C=0.062
1000GenomesEuropeSub1006A=0.552C=0.448
1000GenomesGlobalStudy-wide5008A=0.640C=0.360
1000GenomesSouth AsianSub978A=0.710C=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.521C=0.479
The Exome Aggregation ConsortiumAmericanSub21976A=0.541C=0.459
The Exome Aggregation ConsortiumAsianSub25162A=0.772C=0.227
The Exome Aggregation ConsortiumEuropeSub73332A=0.525C=0.474
The Exome Aggregation ConsortiumGlobalStudy-wide121376A=0.579C=0.420
The Exome Aggregation ConsortiumOtherSub906A=0.570C=0.430
The Genome Aggregation DatabaseAfricanSub8660A=0.481C=0.519
The Genome Aggregation DatabaseAmericanSub834A=0.570C=0.430
The Genome Aggregation DatabaseEast AsianSub1618A=0.955C=0.045
The Genome Aggregation DatabaseEuropeSub18334A=0.507C=0.492
The Genome Aggregation DatabaseGlobalStudy-wide29748A=0.526C=0.473
The Genome Aggregation DatabaseOtherSub302A=0.580C=0.420
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.516C=0.483
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.524C=0.476
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
rs75158200.000895alcohol dependence21314694

eQTL of rs7515820 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 rs7515820 in Fetal Brain

Probe ID Position Gene beta p-value
cg24435996chr1:205557160MFSD4-0.0416879361601923.4028e-11

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 )
chr1205505424205505474E067-48621
chr1205505880205506144E067-47951
chr1205513477205513552E067-40543
chr1205517183205517385E067-36710
chr1205517414205517592E067-36503
chr1205517904205517954E067-36141
chr1205562042205562129E0677947
chr1205562618205563024E0678523
chr1205563087205563310E0678992
chr1205568040205569257E06713945
chr1205569307205569513E06715212
chr1205578671205578769E06724576
chr1205579230205579467E06725135
chr1205505424205505474E068-48621
chr1205505880205506144E068-47951
chr1205506232205506309E068-47786
chr1205506544205506604E068-47491
chr1205506725205506811E068-47284
chr1205513477205513552E068-40543
chr1205568040205569257E06813945
chr1205569307205569513E06815212
chr1205505880205506144E069-47951
chr1205506232205506309E069-47786
chr1205506544205506604E069-47491
chr1205513477205513552E069-40543
chr1205513606205513661E069-40434
chr1205513799205513849E069-40246
chr1205560634205560740E0696539
chr1205562042205562129E0697947
chr1205578671205578769E06924576
chr1205579230205579467E06925135
chr1205568040205569257E07013945
chr1205505424205505474E071-48621
chr1205505880205506144E071-47951
chr1205506232205506309E071-47786
chr1205506544205506604E071-47491
chr1205506725205506811E071-47284
chr1205513477205513552E071-40543
chr1205560634205560740E0716539
chr1205567765205567825E07113670
chr1205568040205569257E07113945
chr1205569307205569513E07115212
chr1205579230205579467E07125135
chr1205580333205580625E07126238
chr1205597805205598016E07143710
chr1205598187205598237E07144092
chr1205505424205505474E072-48621
chr1205505880205506144E072-47951
chr1205506232205506309E072-47786
chr1205513477205513552E072-40543
chr1205513606205513661E072-40434
chr1205513799205513849E072-40246
chr1205546086205546196E072-7899
chr1205546604205546696E072-7399
chr1205546866205546971E072-7124
chr1205547167205547211E072-6884
chr1205562042205562129E0727947
chr1205562618205563024E0728523
chr1205563087205563310E0728992
chr1205569307205569513E07215212
chr1205578671205578769E07224576
chr1205579230205579467E07225135
chr1205580333205580625E07226238
chr1205505424205505474E073-48621
chr1205546494205546562E073-7533
chr1205546604205546696E073-7399
chr1205546866205546971E073-7124
chr1205552857205552918E073-1177
chr1205562042205562129E0737947
chr1205564408205564577E07310313
chr1205568040205569257E07313945
chr1205569307205569513E07315212
chr1205579230205579467E07325135
chr1205505424205505474E074-48621
chr1205505880205506144E074-47951
chr1205506232205506309E074-47786
chr1205506544205506604E074-47491
chr1205506725205506811E074-47284
chr1205513477205513552E074-40543
chr1205562042205562129E0747947
chr1205567765205567825E07413670
chr1205568040205569257E07413945
chr1205569307205569513E07415212
chr1205578671205578769E07424576
chr1205579230205579467E07425135
chr1205585692205586228E07431597
chr1205517183205517385E081-36710
chr1205517414205517592E081-36503
chr1205546604205546696E081-7399
chr1205546866205546971E081-7124
chr1205566869205566946E08112774
chr1205567058205567441E08112963
chr1205567765205567825E08113670
chr1205568040205569257E08113945
chr1205569307205569513E08115212
chr1205517183205517385E082-36710
chr1205517414205517592E082-36503
chr1205566869205566946E08212774
chr1205567058205567441E08212963
chr1205567765205567825E08213670
chr1205568040205569257E08213945
chr1205569307205569513E08215212










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1205537832205537969E067-16126
chr1205538055205538443E067-15652
chr1205539029205539098E067-14997
chr1205539223205539273E067-14822
chr1205560793205561502E0676698
chr1205599337205602232E06745242
chr1205537832205537969E068-16126
chr1205538055205538443E068-15652
chr1205560793205561502E0686698
chr1205599337205602232E06845242
chr1205537832205537969E069-16126
chr1205538055205538443E069-15652
chr1205539029205539098E069-14997
chr1205560793205561502E0696698
chr1205599337205602232E06945242
chr1205560793205561502E0706698
chr1205599337205602232E07045242
chr1205537832205537969E071-16126
chr1205538055205538443E071-15652
chr1205539029205539098E071-14997
chr1205599337205602232E07145242
chr1205537832205537969E072-16126
chr1205538055205538443E072-15652
chr1205539029205539098E072-14997
chr1205539223205539273E072-14822
chr1205560793205561502E0726698
chr1205599337205602232E07245242
chr1205537832205537969E073-16126
chr1205538055205538443E073-15652
chr1205539029205539098E073-14997
chr1205539223205539273E073-14822
chr1205560793205561502E0736698
chr1205599337205602232E07345242
chr1205560793205561502E0746698
chr1205599337205602232E07445242
chr1205599337205602232E08145242
chr1205537832205537969E082-16126
chr1205538055205538443E082-15652
chr1205560793205561502E0826698
chr1205599337205602232E08245242