rs6501422

Homo sapiens
T>C
ARSG : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0133 (3998/29950,GnomAD)
C=0157 (4587/29118,TOPMED)
C=0226 (1134/5008,1000G)
C=0044 (168/3854,ALSPAC)
C=0043 (161/3708,TWINSUK)
chr17:68393505 (GRCh38.p7) (17q24.2)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.68393505T>C
GRCh37.p13 chr 17NC_000017.10:g.66389646T>C
ARSG RefSeqGeneNG_032814.1:g.139324T>C

Gene: ARSG, arylsulfatase G(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ARSG transcript variant 2NM_001267727.1:c.N/AIntron Variant
ARSG transcript variant 1NM_014960.4:c.N/AIntron Variant
ARSG transcript variant X10XM_005257170.3:c.N/AIntron Variant
ARSG transcript variant X2XM_006721777.3:c.N/AIntron Variant
ARSG transcript variant X1XM_011524535.2:c.N/AIntron Variant
ARSG transcript variant X1XM_011524536.2:c.N/AIntron Variant
ARSG transcript variant X3XM_011524537.1:c.N/AIntron Variant
ARSG transcript variant X3XM_011524538.2:c.N/AIntron Variant
ARSG transcript variant X8XM_011524540.2:c.N/AIntron Variant
ARSG transcript variant X12XM_011524541.2:c.N/AIntron Variant
ARSG transcript variant X13XM_011524542.2:c.N/AIntron Variant
ARSG transcript variant X18XM_011524543.2:c.N/AIntron Variant
ARSG transcript variant X19XM_011524544.2:c.N/AIntron Variant
ARSG transcript variant X22XM_011524545.2:c.N/AIntron Variant
ARSG transcript variant X7XM_011524546.2:c.N/AIntron Variant
ARSG transcript variant X6XM_017024360.1:c.N/AIntron Variant
ARSG transcript variant X9XM_017024361.1:c.N/AIntron Variant
ARSG transcript variant X14XM_017024362.1:c.N/AIntron Variant
ARSG transcript variant X15XM_017024363.1:c.N/AIntron Variant
ARSG transcript variant X16XM_017024364.1:c.N/AIntron Variant
ARSG transcript variant X4XM_017024365.1:c.N/AIntron Variant
ARSG transcript variant X20XM_017024366.1:c.N/AIntron Variant
ARSG transcript variant X21XM_017024367.1:c.N/AIntron Variant
ARSG transcript variant X6XM_017024368.1:c.N/AIntron Variant
ARSG transcript variant X25XM_005257172.3:c.N/AGenic Downstream Transcript Variant
ARSG transcript variant X26XM_006721779.3:c.N/AGenic Downstream Transcript Variant
ARSG transcript variant X4XR_001752452.1:n.N/AIntron Variant
ARSG transcript variant X11XR_001752453.1:n.N/AIntron Variant
ARSG transcript variant X23XR_001752454.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.679C=0.321
1000GenomesAmericanSub694T=0.950C=0.050
1000GenomesEast AsianSub1008T=0.636C=0.364
1000GenomesEuropeSub1006T=0.943C=0.057
1000GenomesGlobalStudy-wide5008T=0.774C=0.226
1000GenomesSouth AsianSub978T=0.750C=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.956C=0.044
The Genome Aggregation DatabaseAfricanSub8706T=0.708C=0.292
The Genome Aggregation DatabaseAmericanSub838T=0.950C=0.050
The Genome Aggregation DatabaseEast AsianSub1620T=0.603C=0.397
The Genome Aggregation DatabaseEuropeSub18484T=0.959C=0.040
The Genome Aggregation DatabaseGlobalStudy-wide29950T=0.866C=0.133
The Genome Aggregation DatabaseOtherSub302T=0.900C=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.842C=0.157
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.957C=0.043
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
rs65014226.5E-05alcoholism (heaviness of drinking)21529783

eQTL of rs6501422 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 rs6501422 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 )
chr176637328866373714E067-15932
chr176637328866373714E068-15932
chr176637389066375380E068-14266
chr176637539966375547E068-14099
chr176638193366382064E068-7582
chr176638209766382393E068-7253
chr176638209766382393E070-7253
chr176638241466382972E070-6674
chr176637328866373714E071-15932
chr176638193366382064E071-7582
chr176638209766382393E071-7253
chr176638241466382972E071-6674
chr176643208366432932E07142437
chr176643338266433436E07143736
chr176643346666433518E07143820
chr176643715566437780E07147509
chr176643779566438191E07148149
chr176643825066438353E07148604
chr176643852866438593E07148882
chr176643864366438707E07148997
chr176643877366438823E07149127
chr176643894566439026E07149299
chr176643906366439200E07149417
chr176637328866373714E072-15932
chr176643208366432932E07242437
chr176637328866373714E073-15932
chr176637389066375380E073-14266
chr176639457666394687E0734930
chr176637328866373714E074-15932
chr176637389066375380E074-14266
chr176643864366438707E07448997
chr176643877366438823E07449127
chr176643894566439026E07449299
chr176638209766382393E081-7253
chr176638241466382972E081-6674
chr176638301266383200E081-6446
chr176642728466427609E08137638
chr176638193366382064E082-7582
chr176638209766382393E082-7253
chr176638241466382972E082-6674
chr176638409666384359E082-5287
chr176638441266384794E082-4852









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr176640975866409853E08220112
chr176641018766410385E08220541