rs2895596

Homo sapiens
A>G
FRMD4A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0247 (7372/29768,GnomAD)
A==0265 (7743/29118,TOPMED)
A==0242 (1212/5008,1000G)
A==0146 (561/3854,ALSPAC)
A==0133 (492/3708,TWINSUK)
chr10:14224086 (GRCh38.p7) (10p13)
AD
GWASCatalog
1   publication(s)
See rs on genome
93 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.14224086A>G
GRCh37.p13 chr 10NC_000010.10:g.14266085A>G

Gene: FRMD4A, FERM domain containing 4A(minus strand)

Molecule type Change Amino acid[Codon] SO Term
FRMD4A transcript variant 1NM_018027.4:c.N/AIntron Variant
FRMD4A transcript variant 2NM_001318336.1:c.N/AGenic Upstream Transcript Variant
FRMD4A transcript variant 3NM_001318337.1:c.N/AGenic Upstream Transcript Variant
FRMD4A transcript variant 4NM_001318338.1:c.N/AGenic Upstream Transcript Variant
FRMD4A transcript variant 5NR_134578.1:n.N/AIntron Variant
FRMD4A transcript variant X11XM_011519543.2:c.N/AIntron Variant
FRMD4A transcript variant X12XM_017016394.1:c.N/AIntron Variant
FRMD4A transcript variant X9XM_005252489.2:c.N/AGenic Upstream Transcript Variant
FRMD4A transcript variant X10XM_005252490.2:c.N/AGenic Upstream Transcript Variant
FRMD4A transcript variant X16XM_005252495.4:c.N/AGenic Upstream Transcript Variant
FRMD4A transcript variant X1XM_006717457.2:c.N/AGenic Upstream Transcript Variant
FRMD4A transcript variant X2XM_006717458.3:c.N/AGenic Upstream Transcript Variant
FRMD4A transcript variant X3XM_006717459.2:c.N/AGenic Upstream Transcript Variant
FRMD4A transcript variant X4XM_006717460.2:c.N/AGenic Upstream Transcript Variant
FRMD4A transcript variant X15XM_006717464.1:c.N/AGenic Upstream Transcript Variant
FRMD4A transcript variant X5XM_011519539.1:c.N/AGenic Upstream Transcript Variant
FRMD4A transcript variant X6XM_011519540.1:c.N/AGenic Upstream Transcript Variant
FRMD4A transcript variant X7XM_011519541.1:c.N/AGenic Upstream Transcript Variant
FRMD4A transcript variant X8XM_017016393.1:c.N/AGenic Upstream Transcript Variant
FRMD4A transcript variant X13XM_017016395.1:c.N/AGenic Upstream Transcript Variant
FRMD4A transcript variant X14XM_017016396.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.480G=0.520
1000GenomesAmericanSub694A=0.090G=0.910
1000GenomesEast AsianSub1008A=0.234G=0.766
1000GenomesEuropeSub1006A=0.158G=0.842
1000GenomesGlobalStudy-wide5008A=0.242G=0.758
1000GenomesSouth AsianSub978A=0.120G=0.880
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.146G=0.854
The Genome Aggregation DatabaseAfricanSub8648A=0.440G=0.560
The Genome Aggregation DatabaseAmericanSub830A=0.080G=0.920
The Genome Aggregation DatabaseEast AsianSub1610A=0.208G=0.792
The Genome Aggregation DatabaseEuropeSub18382A=0.171G=0.828
The Genome Aggregation DatabaseGlobalStudy-wide29768A=0.247G=0.752
The Genome Aggregation DatabaseOtherSub298A=0.060G=0.940
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.265G=0.734
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.133G=0.867
PMID Title Author Journal
29460428Genomewide Association Study of Alcohol Dependence and Related Traits in a Thai Population.Gelernter JAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs28955963E-06alcohol consumption measurement29460428

eQTL of rs2895596 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 rs2895596 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 )
chr101428192714281981E06715842
chr101426742914267652E0681344
chr101426765314267756E0681568
chr101426785914267980E0681774
chr101428192714281981E06815842
chr101428294214283074E06816857
chr101428361314283702E06817528
chr101428373314283845E06817648
chr101428388714283975E06817802
chr101430421114304261E06838126
chr101430451414305583E06838429
chr101424670614246769E069-19316
chr101426742914267652E0691344
chr101426765314267756E0691568
chr101426785914267980E0691774
chr101428294214283074E06916857
chr101428907014290357E06922985
chr101430600114306065E07039916
chr101430174714302674E07135662
chr101421689414216934E072-49151
chr101421697114217077E072-49008
chr101421712514217324E072-48761
chr101426785914267980E0721774
chr101428388714283975E07217802
chr101428192714281981E07315842
chr101428854814288602E07322463
chr101428866814288812E07322583
chr101421689414216934E081-49151
chr101421697114217077E081-49008
chr101421712514217324E081-48761
chr101422657414228760E081-37325
chr101423280514232967E081-33118
chr101423301114233094E081-32991
chr101423321314233263E081-32822
chr101423332914234085E081-32000
chr101423446714234517E081-31568
chr101423503014235084E081-31001
chr101423509514235167E081-30918
chr101423517214235282E081-30803
chr101423531214235352E081-30733
chr101423546114235644E081-30441
chr101423797014238023E081-28062
chr101423804514238180E081-27905
chr101423820614238289E081-27796
chr101423830414238406E081-27679
chr101426396114264563E081-1522
chr101426471314264763E081-1322
chr101426577714265901E081-184
chr101426596214266031E081-54
chr101426608314266269E0810
chr101426630314266402E081218
chr101427557814275897E0819493
chr101427604814276098E0819963
chr101428192714281981E08115842
chr101428216714282845E08116082
chr101428294214283074E08116857
chr101428355314283603E08117468
chr101428361314283702E08117528
chr101428373314283845E08117648
chr101428388714283975E08117802
chr101428403814284123E08117953
chr101428417414284389E08118089
chr101428819414288238E08122109
chr101428829114288341E08122206
chr101428854814288602E08122463
chr101428866814288812E08122583
chr101428907014290357E08122985
chr101429354014293661E08127455
chr101430174714302674E08135662
chr101430345014303637E08137365
chr101430392714303967E08137842
chr101430412914304183E08138044
chr101430421114304261E08138126
chr101430451414305583E08138429
chr101430579414305904E08139709
chr101430600114306065E08139916
chr101421689414216934E082-49151
chr101421697114217077E082-49008
chr101421712514217324E082-48761
chr101421737414217449E082-48636
chr101426396114264563E082-1522
chr101426471314264763E082-1322
chr101426596214266031E082-54
chr101428192714281981E08215842
chr101428294214283074E08216857
chr101428355314283603E08217468
chr101428361314283702E08217528
chr101428373314283845E08217648
chr101428854814288602E08222463
chr101428866814288812E08222583
chr101430451414305583E08238429
chr101430579414305904E08239709
chr101430600114306065E08239916