rs4630612

Homo sapiens
A>G
MMD : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0309 (9254/29866,GnomAD)
A==0279 (8142/29118,TOPMED)
A==0260 (1302/5008,1000G)
A==0345 (1330/3854,ALSPAC)
A==0336 (1245/3708,TWINSUK)
chr17:55420404 (GRCh38.p7) (17q22)
AD
GWASdb2
1   publication(s)
See rs on genome
48 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.55420404A>G
GRCh37.p13 chr 17NC_000017.10:g.53497765A>G

Gene: MMD, monocyte to macrophage differentiation associated(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MMD transcriptNM_012329.2:c.N/AIntron Variant
MMD transcript variant X1XM_006721795.2:c.N/AIntron Variant
MMD transcript variant X4XR_001752463.1:n.N/AIntron Variant
MMD transcript variant X5XR_001752464.1:n.N/AIntron Variant
MMD transcript variant X2XR_429880.2:n.N/AIntron Variant
MMD transcript variant X3XR_934430.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.230G=0.770
1000GenomesAmericanSub694A=0.270G=0.730
1000GenomesEast AsianSub1008A=0.148G=0.852
1000GenomesEuropeSub1006A=0.379G=0.621
1000GenomesGlobalStudy-wide5008A=0.260G=0.740
1000GenomesSouth AsianSub978A=0.290G=0.710
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.345G=0.655
The Genome Aggregation DatabaseAfricanSub8694A=0.227G=0.773
The Genome Aggregation DatabaseAmericanSub836A=0.280G=0.720
The Genome Aggregation DatabaseEast AsianSub1622A=0.158G=0.842
The Genome Aggregation DatabaseEuropeSub18412A=0.362G=0.637
The Genome Aggregation DatabaseGlobalStudy-wide29866A=0.309G=0.690
The Genome Aggregation DatabaseOtherSub302A=0.420G=0.580
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.279G=0.720
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.336G=0.664
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs46306120.0000447alcoholismpha002891
rs46306120.0000447alcohol dependence20201924

eQTL of rs4630612 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 rs4630612 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 )
chr175346610253466531E067-31234
chr175347171653471857E067-25908
chr175346610253466531E068-31234
chr175346832753468406E068-29359
chr175346845853468573E068-29192
chr175347613753476381E068-21384
chr175347641853476503E068-21262
chr175347679453476902E068-20863
chr175348313053483258E068-14507
chr175348496453485719E068-12046
chr175349637353496461E068-1304
chr175349662453496816E068-949
chr175349686353496938E068-827
chr175351365953513861E06815894
chr175351387753514072E06816112
chr175351412553514412E06816360
chr175351454853515117E06816783
chr175346832753468406E069-29359
chr175346845853468573E069-29192
chr175348496453485719E069-12046
chr175348496453485719E071-12046
chr175351655853516665E07118793
chr175351676753516891E07119002
chr175351884053518914E07121075
chr175351893853519001E07121173
chr175351903753519146E07121272
chr175347171653471857E072-25908
chr175347190453472639E072-25126
chr175348474553484946E072-12819
chr175348496453485719E072-12046
chr175346832753468406E073-29359
chr175346845853468573E073-29192
chr175346864253468722E073-29043
chr175346900753469148E073-28617
chr175347171653471857E073-25908
chr175347190453472639E074-25126
chr175349995953500013E0742194
chr175354446853544618E07446703
chr175349308953493214E082-4551
chr175349662453496816E082-949
chr175349686353496938E082-827
chr175351769553517760E08219930
chr175351777153518190E08220006
chr175351861153518771E08220846
chr175351884053518914E08221075
chr175351893853519001E08221173
chr175351903753519146E08221272
chr175351931153519388E08221546








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr175349737853499909E0670
chr175349737853499909E0680
chr175349737853499909E0690
chr175349737853499909E0700
chr175349737853499909E0710
chr175349737853499909E0720
chr175349737853499909E0730
chr175349737853499909E0740
chr175349737853499909E0810
chr175349737853499909E0820