rs6996005

Homo sapiens
T>G
OXR1 : Intron Variant
LOC105375700 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0391 (11721/29916,GnomAD)
G=0456 (13288/29118,TOPMED)
G=0418 (2095/5008,1000G)
G=0266 (1026/3854,ALSPAC)
G=0265 (984/3708,TWINSUK)
chr8:106520699 (GRCh38.p7) (8q23.1)
AD
GWASdb2
1   publication(s)
See rs on genome
46 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.106520699T>G
GRCh37.p13 chr 8NC_000008.10:g.107532927T>G

Gene: OXR1, oxidation resistance 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
OXR1 transcript variant 3NM_001198532.1:c.N/AIntron Variant
OXR1 transcript variant 4NM_001198533.1:c.N/AIntron Variant
OXR1 transcript variant 1NM_018002.3:c.N/AIntron Variant
OXR1 transcript variant 5NM_001198534.1:c.N/AGenic Upstream Transcript Variant
OXR1 transcript variant 6NM_001198535.1:c.N/AGenic Upstream Transcript Variant
OXR1 transcript variant 2NM_181354.4:c.N/AGenic Upstream Transcript Variant
OXR1 transcript variant X2XM_006716595.2:c.N/AIntron Variant
OXR1 transcript variant X12XM_017013596.1:c.N/AIntron Variant
OXR1 transcript variant X1XM_017013589.1:c.N/AGenic Upstream Transcript Variant
OXR1 transcript variant X3XM_017013590.1:c.N/AGenic Upstream Transcript Variant
OXR1 transcript variant X4XM_017013591.1:c.N/AGenic Upstream Transcript Variant
OXR1 transcript variant X5XM_017013592.1:c.N/AGenic Upstream Transcript Variant
OXR1 transcript variant X6XM_017013593.1:c.N/AGenic Upstream Transcript Variant
OXR1 transcript variant X7XM_017013594.1:c.N/AGenic Upstream Transcript Variant
OXR1 transcript variant X11XM_017013595.1:c.N/AGenic Upstream Transcript Variant
OXR1 transcript variant X13XM_017013597.1:c.N/AGenic Upstream Transcript Variant
OXR1 transcript variant X14XM_017013598.1:c.N/AGenic Upstream Transcript Variant
OXR1 transcript variant X15XM_017013599.1:c.N/AGenic Upstream Transcript Variant
OXR1 transcript variant X16XM_017013600.1:c.N/AGenic Upstream Transcript Variant
OXR1 transcript variant X8XR_001745546.1:n.N/AIntron Variant
OXR1 transcript variant X9XR_001745547.1:n.N/AIntron Variant
OXR1 transcript variant X10XR_001745548.1:n.N/AIntron Variant

Gene: LOC105375700, uncharacterized LOC105375700(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105375700 transcript variant X2XR_001746029.1:n.N/AIntron Variant
LOC105375700 transcript variant X1XR_001746028.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.247G=0.753
1000GenomesAmericanSub694T=0.670G=0.330
1000GenomesEast AsianSub1008T=0.593G=0.407
1000GenomesEuropeSub1006T=0.746G=0.254
1000GenomesGlobalStudy-wide5008T=0.582G=0.418
1000GenomesSouth AsianSub978T=0.790G=0.210
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.734G=0.266
The Genome Aggregation DatabaseAfricanSub8706T=0.321G=0.679
The Genome Aggregation DatabaseAmericanSub832T=0.680G=0.320
The Genome Aggregation DatabaseEast AsianSub1612T=0.598G=0.402
The Genome Aggregation DatabaseEuropeSub18464T=0.741G=0.258
The Genome Aggregation DatabaseGlobalStudy-wide29916T=0.608G=0.391
The Genome Aggregation DatabaseOtherSub302T=0.580G=0.420
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.543G=0.456
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.735G=0.265
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs69960057.03E-05alcohol consumption23743675

eQTL of rs6996005 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 rs6996005 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 )
chr8107512514107512582E067-20345
chr8107512785107513309E067-19618
chr8107513371107513610E067-19317
chr8107526206107526290E067-6637
chr8107526378107526440E067-6487
chr8107526602107526724E067-6203
chr8107526761107526844E067-6083
chr8107537101107537390E0674174
chr8107510915107510965E068-21962
chr8107511947107512324E068-20603
chr8107512514107512582E068-20345
chr8107512785107513309E068-19618
chr8107513371107513610E068-19317
chr8107513664107513790E068-19137
chr8107513847107514061E068-18866
chr8107514226107514300E068-18627
chr8107514416107514466E068-18461
chr8107568522107568669E06835595
chr8107568684107569206E06835757
chr8107511947107512324E069-20603
chr8107512514107512582E069-20345
chr8107512785107513309E069-19618
chr8107513371107513610E069-19317
chr8107513664107513790E069-19137
chr8107525428107525513E069-7414
chr8107525674107525882E069-7045
chr8107579511107579619E07046584
chr8107579621107579696E07046694
chr8107579709107579845E07046782
chr8107510915107510965E071-21962
chr8107511947107512324E071-20603
chr8107512514107512582E071-20345
chr8107512785107513309E071-19618
chr8107513371107513610E071-19317
chr8107513664107513790E071-19137
chr8107513847107514061E071-18866
chr8107514226107514300E071-18627
chr8107511947107512324E072-20603
chr8107510915107510965E073-21962
chr8107511947107512324E073-20603
chr8107512514107512582E073-20345
chr8107512785107513309E073-19618
chr8107513371107513610E073-19317
chr8107513371107513610E074-19317
chr8107513664107513790E074-19137
chr8107516278107516364E074-16563