rs4389431

Homo sapiens
C>T
SUSD5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0209 (6274/29932,GnomAD)
T=0170 (4965/29118,TOPMED)
T=0266 (1331/5008,1000G)
T=0218 (840/3854,ALSPAC)
T=0203 (753/3708,TWINSUK)
chr3:33201894 (GRCh38.p7) (3p22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
13 Enhancers around
26 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.33201894C>T
GRCh37.p13 chr 3NC_000003.11:g.33243386C>T

Gene: SUSD5, sushi domain containing 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SUSD5 transcriptNM_015551.1:c.N/AIntron Variant
SUSD5 transcript variant X1XM_005265034.3:c.N/AIntron Variant
SUSD5 transcript variant X2XM_017006137.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.958T=0.042
1000GenomesAmericanSub694C=0.670T=0.330
1000GenomesEast AsianSub1008C=0.529T=0.471
1000GenomesEuropeSub1006C=0.764T=0.236
1000GenomesGlobalStudy-wide5008C=0.734T=0.266
1000GenomesSouth AsianSub978C=0.660T=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.782T=0.218
The Genome Aggregation DatabaseAfricanSub8718C=0.923T=0.077
The Genome Aggregation DatabaseAmericanSub836C=0.650T=0.350
The Genome Aggregation DatabaseEast AsianSub1610C=0.583T=0.417
The Genome Aggregation DatabaseEuropeSub18466C=0.751T=0.248
The Genome Aggregation DatabaseGlobalStudy-wide29932C=0.790T=0.209
The Genome Aggregation DatabaseOtherSub302C=0.810T=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.829T=0.170
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.797T=0.203
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
rs43894310.000563alcohol dependence21314694

eQTL of rs4389431 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 rs4389431 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 )
chr33320926133209594E067-33792
chr33324512933245192E0671743
chr33320926133209594E069-33792
chr33320926133209594E071-33792
chr33321470633214965E071-28421
chr33321497333215028E071-28358
chr33320926133209594E072-33792
chr33321470633214965E072-28421
chr33321497333215028E072-28358
chr33324457133244721E0721185
chr33324512933245192E0721743
chr33320926133209594E073-33792
chr33321497333215028E074-28358






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr33325920833259505E06715822
chr33325950633260797E06716120
chr33326080433260962E06717418
chr33325908933259167E06815703
chr33325920833259505E06815822
chr33325950633260797E06816120
chr33326080433260962E06817418
chr33325920833259505E06915822
chr33325950633260797E06916120
chr33325908933259167E07115703
chr33325920833259505E07115822
chr33325950633260797E07116120
chr33326080433260962E07117418
chr33325908933259167E07215703
chr33325920833259505E07215822
chr33325950633260797E07216120
chr33326080433260962E07217418
chr33325908933259167E07315703
chr33325920833259505E07315822
chr33325950633260797E07316120
chr33326080433260962E07317418
chr33325920833259505E07415822
chr33325950633260797E07416120
chr33325920833259505E08215822
chr33325950633260797E08216120
chr33326080433260962E08217418