rs2433285

Homo sapiens
T>C
FAM214A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0278 (8342/29918,GnomAD)
T==0261 (7624/29118,TOPMED)
T==0221 (1107/5008,1000G)
T==0337 (1299/3854,ALSPAC)
T==0331 (1228/3708,TWINSUK)
chr15:52705779 (GRCh38.p7) (15q21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
153 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.52705779T>C
GRCh37.p13 chr 15NC_000015.9:g.52997976T>C

Gene: FAM214A, family with sequence similarity 214 member A(minus strand)

Molecule type Change Amino acid[Codon] SO Term
FAM214A transcript variant 2NM_001286495.1:c.N/AGenic Upstream Transcript Variant
FAM214A transcript variant 1NM_019600.3:c.N/AGenic Upstream Transcript Variant
FAM214A transcript variant 3NR_104457.1:n.N/AGenic Upstream Transcript Variant
FAM214A transcript variant X4XM_011521789.2:c.N/AIntron Variant
FAM214A transcript variant X1XM_005254547.2:c.N/AGenic Upstream Transcript Variant
FAM214A transcript variant X2XM_005254548.2:c.N/AGenic Upstream Transcript Variant
FAM214A transcript variant X4XM_011521790.1:c.N/AGenic Upstream Transcript Variant
FAM214A transcript variant X9XR_001751356.1:n.N/AGenic Upstream Transcript Variant
FAM214A transcript variant X11XR_001751357.1:n.N/AGenic Upstream Transcript Variant
FAM214A transcript variant X12XR_001751358.1:n.N/AGenic Upstream Transcript Variant
FAM214A transcript variant X13XR_001751359.1:n.N/AGenic Upstream Transcript Variant
FAM214A transcript variant X14XR_001751360.1:n.N/AGenic Upstream Transcript Variant
FAM214A transcript variant X8XR_931866.2:n.N/AGenic Upstream Transcript Variant
FAM214A transcript variant X10XR_931867.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.151C=0.849
1000GenomesAmericanSub694T=0.190C=0.810
1000GenomesEast AsianSub1008T=0.070C=0.930
1000GenomesEuropeSub1006T=0.348C=0.652
1000GenomesGlobalStudy-wide5008T=0.221C=0.779
1000GenomesSouth AsianSub978T=0.360C=0.640
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.337C=0.663
The Genome Aggregation DatabaseAfricanSub8714T=0.180C=0.820
The Genome Aggregation DatabaseAmericanSub838T=0.200C=0.800
The Genome Aggregation DatabaseEast AsianSub1616T=0.074C=0.926
The Genome Aggregation DatabaseEuropeSub18448T=0.346C=0.654
The Genome Aggregation DatabaseGlobalStudy-wide29918T=0.278C=0.721
The Genome Aggregation DatabaseOtherSub302T=0.330C=0.670
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.261C=0.738
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.331C=0.669
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
rs24332850.000388alcohol dependence21314694

eQTL of rs2433285 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 rs2433285 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 )
chr155294827052948342E067-49634
chr155294849452948552E067-49424
chr155294855952948632E067-49344
chr155294874152949054E067-48922
chr155294944652949857E067-48119
chr155294990252949952E067-48024
chr155295034352950466E067-47510
chr155295058552950625E067-47351
chr155295073052950791E067-47185
chr155295090752950970E067-47006
chr155295103652951126E067-46850
chr155295123552951481E067-46495
chr155295168352951733E067-46243
chr155296224452962298E067-35678
chr155296233352962523E067-35453
chr155296504052965326E067-32650
chr155296534252965421E067-32555
chr155296557152965732E067-32244
chr155296587552965961E067-32015
chr155296604652966176E067-31800
chr155296649652966578E067-31398
chr155296738352967489E067-30487
chr155296755452967604E067-30372
chr155294827052948342E068-49634
chr155294849452948552E068-49424
chr155294855952948632E068-49344
chr155294874152949054E068-48922
chr155294944652949857E068-48119
chr155294990252949952E068-48024
chr155295034352950466E068-47510
chr155295058552950625E068-47351
chr155295073052950791E068-47185
chr155295090752950970E068-47006
chr155295103652951126E068-46850
chr155295123552951481E068-46495
chr155296355952963609E068-34367
chr155296395352964014E068-33962
chr155296504052965326E068-32650
chr155296534252965421E068-32555
chr155296557152965732E068-32244
chr155296587552965961E068-32015
chr155296604652966176E068-31800
chr155294827052948342E069-49634
chr155294849452948552E069-49424
chr155294855952948632E069-49344
chr155294874152949054E069-48922
chr155294944652949857E069-48119
chr155294990252949952E069-48024
chr155295034352950466E069-47510
chr155295058552950625E069-47351
chr155295691952956985E069-40991
chr155296504052965326E069-32650
chr155296534252965421E069-32555
chr155296557152965732E069-32244
chr155296587552965961E069-32015
chr155296604652966176E069-31800
chr155296859452968644E069-29332
chr155296204452962104E070-35872
chr155296224452962298E070-35678
chr155296233352962523E070-35453
chr155296355952963609E070-34367
chr155296395352964014E070-33962
chr155296448652964550E070-33426
chr155296504052965326E070-32650
chr155296534252965421E070-32555
chr155296604652966176E070-31800
chr155296649652966578E070-31398
chr155296755452967604E070-30372
chr155300985953009914E07011883
chr155301029453010526E07012318
chr155294827052948342E071-49634
chr155294849452948552E071-49424
chr155294855952948632E071-49344
chr155294874152949054E071-48922
chr155294944652949857E071-48119
chr155294990252949952E071-48024
chr155295034352950466E071-47510
chr155295058552950625E071-47351
chr155295073052950791E071-47185
chr155295090752950970E071-47006
chr155295103652951126E071-46850
chr155295123552951481E071-46495
chr155296224452962298E071-35678
chr155296395352964014E071-33962
chr155296504052965326E071-32650
chr155296534252965421E071-32555
chr155296557152965732E071-32244
chr155296587552965961E071-32015
chr155296604652966176E071-31800
chr155296738352967489E071-30487
chr155296755452967604E071-30372
chr155298188052982005E071-15971
chr155298249752982674E071-15302
chr155294827052948342E072-49634
chr155294849452948552E072-49424
chr155294855952948632E072-49344
chr155294874152949054E072-48922
chr155294944652949857E072-48119
chr155294990252949952E072-48024
chr155295034352950466E072-47510
chr155295058552950625E072-47351
chr155295073052950791E072-47185
chr155295090752950970E072-47006
chr155295103652951126E072-46850
chr155295123552951481E072-46495
chr155296204452962104E072-35872
chr155296224452962298E072-35678
chr155296233352962523E072-35453
chr155296448652964550E072-33426
chr155296504052965326E072-32650
chr155296534252965421E072-32555
chr155296557152965732E072-32244
chr155296587552965961E072-32015
chr155296604652966176E072-31800
chr155296649652966578E072-31398
chr155294827052948342E073-49634
chr155294849452948552E073-49424
chr155294855952948632E073-49344
chr155294874152949054E073-48922
chr155296722852967324E073-30652
chr155296738352967489E073-30487
chr155296755452967604E073-30372
chr155294827052948342E074-49634
chr155294849452948552E074-49424
chr155294855952948632E074-49344
chr155294874152949054E074-48922
chr155294944652949857E074-48119
chr155294990252949952E074-48024
chr155295034352950466E074-47510
chr155295058552950625E074-47351
chr155295073052950791E074-47185
chr155295090752950970E074-47006
chr155295103652951126E074-46850
chr155295123552951481E074-46495
chr155295168352951733E074-46243
chr155296204452962104E074-35872
chr155296224452962298E074-35678
chr155296233352962523E074-35453
chr155296292552962980E074-34996
chr155296302152963086E074-34890
chr155296355952963609E074-34367
chr155296395352964014E074-33962
chr155296448652964550E074-33426
chr155296504052965326E074-32650
chr155296534252965421E074-32555
chr155296557152965732E074-32244
chr155296722852967324E074-30652
chr155296738352967489E074-30487
chr155296755452967604E074-30372
chr155296859452968644E074-29332
chr155296504052965326E082-32650
chr155296534252965421E082-32555
chr155296557152965732E082-32244









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr155296966752972591E067-25385
chr155296966752972591E068-25385
chr155296966752972591E069-25385
chr155296966752972591E070-25385
chr155296966752972591E071-25385
chr155296966752972591E072-25385
chr155296966752972591E073-25385
chr155296966752972591E074-25385
chr155296966752972591E081-25385
chr155296966752972591E082-25385