rs1010434

Homo sapiens
C>T
TMEM2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0048 (1439/29986,GnomAD)
T=0037 (1097/29118,TOPMED)
T=0036 (181/5008,1000G)
T=0068 (261/3854,ALSPAC)
T=0073 (271/3708,TWINSUK)
chr9:71710517 (GRCh38.p7) (9q21.13)
AD
GWASdb2
1   publication(s)
See rs on genome
34 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.71710517C>T
GRCh37.p13 chr 9NC_000009.11:g.74325433C>T

Gene: TMEM2, transmembrane protein 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CEMIP2 transcript variant 2NM_001135820.1:c.N/AIntron Variant
CEMIP2 transcript variant 1NM_013390.2:c.N/AIntron Variant
CEMIP2 transcript variant X1XM_005251869.4:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.992T=0.008
1000GenomesAmericanSub694C=0.960T=0.040
1000GenomesEast AsianSub1008C=0.980T=0.020
1000GenomesEuropeSub1006C=0.940T=0.060
1000GenomesGlobalStudy-wide5008C=0.964T=0.036
1000GenomesSouth AsianSub978C=0.930T=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.932T=0.068
The Genome Aggregation DatabaseAfricanSub8720C=0.987T=0.013
The Genome Aggregation DatabaseAmericanSub838C=0.970T=0.030
The Genome Aggregation DatabaseEast AsianSub1620C=0.994T=0.006
The Genome Aggregation DatabaseEuropeSub18508C=0.930T=0.069
The Genome Aggregation DatabaseGlobalStudy-wide29986C=0.952T=0.048
The Genome Aggregation DatabaseOtherSub300C=0.970T=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.962T=0.037
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.927T=0.073
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
rs10104340.000733alcohol dependence21314694

eQTL of rs1010434 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 rs1010434 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 )
chr97429867074299472E068-25961
chr97429955474299622E068-25811
chr97429964274299742E068-25691
chr97429981874299885E068-25548
chr97429999074300052E068-25381
chr97430007474300294E068-25139
chr97430033674300809E068-24624
chr97434483074345021E06819397
chr97434502574345282E06819592
chr97434565674345706E06820223
chr97429867074299472E069-25961
chr97429955474299622E069-25811
chr97429964274299742E069-25691
chr97427748674277650E070-47783
chr97427774674277864E070-47569
chr97427788074277962E070-47471
chr97427799374278734E070-46699
chr97427881174279043E070-46390
chr97427904674279511E070-45922
chr97436711874367787E07041685
chr97436938474369448E07043951
chr97436947774369517E07044044
chr97436968074369749E07044247
chr97437031474370413E07044881
chr97437161074372212E07046177
chr97437252674372576E07047093
chr97437261674372695E07047183
chr97437273774374187E07047304
chr97437430074374543E07048867
chr97429955474299622E071-25811
chr97429964274299742E071-25691
chr97429867074299472E073-25961
chr97436322274363646E07337789
chr97437161074372212E07346177