rs4381241

Homo sapiens
T>C
FAF1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0481 (14381/29896,GnomAD)
T==0439 (12789/29118,TOPMED)
C=0435 (2177/5008,1000G)
C=0460 (1774/3854,ALSPAC)
C=0472 (1751/3708,TWINSUK)
chr1:50441766 (GRCh38.p7) (1p32.3)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.50441766T>C
GRCh37.p13 chr 1NC_000001.10:g.50907438T>C

Gene: FAF1, Fas associated factor 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
FAF1 transcriptNM_007051.2:c.N/AIntron Variant
FAF1 transcript variant X3XM_017000136.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.293C=0.707
1000GenomesAmericanSub694T=0.650C=0.350
1000GenomesEast AsianSub1008T=0.842C=0.158
1000GenomesEuropeSub1006T=0.539C=0.461
1000GenomesGlobalStudy-wide5008T=0.565C=0.435
1000GenomesSouth AsianSub978T=0.610C=0.390
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.540C=0.460
The Genome Aggregation DatabaseAfricanSub8716T=0.314C=0.686
The Genome Aggregation DatabaseAmericanSub836T=0.700C=0.300
The Genome Aggregation DatabaseEast AsianSub1616T=0.809C=0.191
The Genome Aggregation DatabaseEuropeSub18426T=0.583C=0.416
The Genome Aggregation DatabaseGlobalStudy-wide29896T=0.519C=0.481
The Genome Aggregation DatabaseOtherSub302T=0.450C=0.550
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.439C=0.560
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.528C=0.472
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
rs43812410.00015alcohol dependence20201924
rs43812410.00017alcohol dependence(Early Onset)20201924

eQTL of rs4381241 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 rs4381241 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 )
chr15092737450927559E07119936
chr15092737450927559E07419936


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr15088800850889589E067-17849
chr15088800850889589E069-17849
chr15088424750884754E070-22684
chr15088424750884754E071-22684
chr15088800850889589E072-17849
chr15088800850889589E073-17849
chr15088800850889589E074-17849
chr15088424750884754E082-22684
chr15088800850889589E082-17849