rs2275435

Homo sapiens
C>T
SERINC2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0444 (13258/29862,GnomAD)
T=0391 (11384/29118,TOPMED)
T=0317 (1586/5008,1000G)
C==0434 (1672/3854,ALSPAC)
C==0439 (1628/3708,TWINSUK)
chr1:31425689 (GRCh38.p7) (1p35.2)
AD
GWASdb2
2   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.31425689C>T
GRCh37.p13 chr 1 fix patch HG989_PATCHNW_003571030.1:g.25778C>T
GRCh37.p13 chr 1NC_000001.10:g.31898536C>T

Gene: SERINC2, serine incorporator 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SERINC2 transcript variant 3NM_001199037.1:c.N/AIntron Variant
SERINC2 transcript variant 4NM_001199038.1:c.N/AIntron Variant
SERINC2 transcript variant 5NM_001199039.1:c.N/AIntron Variant
SERINC2 transcript variant 2NM_018565.3:c.N/AIntron Variant
SERINC2 transcript variant 1NM_178865.4:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.855T=0.145
1000GenomesAmericanSub694C=0.550T=0.450
1000GenomesEast AsianSub1008C=0.800T=0.200
1000GenomesEuropeSub1006C=0.440T=0.560
1000GenomesGlobalStudy-wide5008C=0.683T=0.317
1000GenomesSouth AsianSub978C=0.670T=0.330
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.434T=0.566
The Genome Aggregation DatabaseAfricanSub8694C=0.797T=0.203
The Genome Aggregation DatabaseAmericanSub834C=0.530T=0.470
The Genome Aggregation DatabaseEast AsianSub1618C=0.787T=0.213
The Genome Aggregation DatabaseEuropeSub18416C=0.425T=0.574
The Genome Aggregation DatabaseGlobalStudy-wide29862C=0.556T=0.444
The Genome Aggregation DatabaseOtherSub300C=0.440T=0.560
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.609T=0.391
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.439T=0.561
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res
21956439Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q.Zuo LNeuropsychopharmacology

P-Value

SNP ID p-value Traits Study
rs22754359.53E-05alcohol dependence21703634

eQTL of rs2275435 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:31898536FABP3ENSG00000121769.3C>T1.5051e-1148839Cerebellum
Chr1:31898536FABP3ENSG00000121769.3C>T2.7794e-748839Cerebellar_Hemisphere

meQTL of rs2275435 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.