rs6962665

Homo sapiens
C>A
IMMP2L : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0293 (8756/29870,GnomAD)
A=0275 (8007/29118,TOPMED)
A=0401 (2006/5008,1000G)
A=0289 (1115/3854,ALSPAC)
A=0305 (1131/3708,TWINSUK)
chr7:111309510 (GRCh38.p7) (7q31.1)
AD
GWASdb2
1   publication(s)
See rs on genome
15 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.111309510C>A
GRCh37.p13 chr 7NC_000007.13:g.110949566C>A
IMMP2L RefSeqGeneNG_030016.1:g.258008G>T

Gene: IMMP2L, IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)(minus strand)

Molecule type Change Amino acid[Codon] SO Term
IMMP2L transcript variant 2NM_001244606.1:c.N/AIntron Variant
IMMP2L transcript variant 1NM_032549.3:c.N/AIntron Variant
IMMP2L transcript variant X10XM_005250630.3:c.N/AIntron Variant
IMMP2L transcript variant X5XM_011516605.2:c.N/AIntron Variant
IMMP2L transcript variant X7XM_011516608.2:c.N/AIntron Variant
IMMP2L transcript variant X9XM_011516609.2:c.N/AIntron Variant
IMMP2L transcript variant X13XM_011516613.2:c.N/AIntron Variant
IMMP2L transcript variant X1XM_017012699.1:c.N/AIntron Variant
IMMP2L transcript variant X2XM_017012700.1:c.N/AIntron Variant
IMMP2L transcript variant X3XM_017012701.1:c.N/AIntron Variant
IMMP2L transcript variant X4XM_017012702.1:c.N/AIntron Variant
IMMP2L transcript variant X5XM_017012703.1:c.N/AIntron Variant
IMMP2L transcript variant X6XM_017012704.1:c.N/AIntron Variant
IMMP2L transcript variant X9XM_017012705.1:c.N/AIntron Variant
IMMP2L transcript variant X10XM_011516611.2:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.813A=0.187
1000GenomesAmericanSub694C=0.610A=0.390
1000GenomesEast AsianSub1008C=0.470A=0.530
1000GenomesEuropeSub1006C=0.657A=0.343
1000GenomesGlobalStudy-wide5008C=0.599A=0.401
1000GenomesSouth AsianSub978C=0.380A=0.620
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.711A=0.289
The Genome Aggregation DatabaseAfricanSub8702C=0.791A=0.209
The Genome Aggregation DatabaseAmericanSub834C=0.610A=0.390
The Genome Aggregation DatabaseEast AsianSub1602C=0.478A=0.522
The Genome Aggregation DatabaseEuropeSub18430C=0.693A=0.306
The Genome Aggregation DatabaseGlobalStudy-wide29870C=0.706A=0.293
The Genome Aggregation DatabaseOtherSub302C=0.590A=0.410
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.725A=0.275
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.695A=0.305
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs69626656.5E-05alcoholism (heaviness of drinking)21529783

eQTL of rs6962665 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 rs6962665 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 )
chr7110914565110915399E068-34167
chr7110914565110915399E070-34167
chr7110930961110931015E070-18551
chr7110931033110931097E070-18469
chr7110931112110931162E070-18404
chr7110931340110931435E070-18131
chr7110931566110931616E070-17950
chr7110933080110933130E070-16436
chr7110914565110915399E071-34167
chr7110904875110904929E081-44637
chr7110905610110905765E081-43801
chr7110905978110906025E081-43541
chr7110904875110904929E082-44637
chr7110905610110905765E082-43801
chr7110914565110915399E082-34167