rs10122775

Homo sapiens
C>T
APTX : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0405 (12099/29834,GnomAD)
T=0396 (11530/29118,TOPMED)
T=0419 (2100/5008,1000G)
T=0320 (1235/3854,ALSPAC)
T=0330 (1225/3708,TWINSUK)
chr9:32884985 (GRCh38.p7) (9p21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
12 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.32884985C>T
GRCh37.p13 chr 9NC_000009.11:g.32884983C>T

Gene: APTX, aprataxin(minus strand)

Molecule type Change Amino acid[Codon] SO Term
APTX transcript variant 6NM_001195248.1:c.N/AGenic Downstream Transcript Variant
APTX transcript variant 7NM_001195249.1:c.N/AGenic Downstream Transcript Variant
APTX transcript variant 8NM_001195250.1:c.N/AGenic Downstream Transcript Variant
APTX transcript variant 9NM_001195251.1:c.N/AGenic Downstream Transcript Variant
APTX transcript variant 11NM_001195252.1:c.N/AGenic Downstream Transcript Variant
APTX transcript variant 10NM_001195254.1:c.N/AGenic Downstream Transcript Variant
APTX transcript variant 2NM_175069.2:c.N/AGenic Downstream Transcript Variant
APTX transcript variant 1NM_175073.2:c.N/AGenic Downstream Transcript Variant
APTX transcript variant 12NR_036576.1:n.N/AGenic Downstream Transcript Variant
APTX transcript variant 13NR_036577.1:n.N/AGenic Downstream Transcript Variant
APTX transcript variant 14NR_036578.1:n.N/AGenic Downstream Transcript Variant
APTX transcript variant 15NR_036579.1:n.N/AGenic Downstream Transcript Variant
APTX transcript variant X1XM_017014831.1:c.N/A3 Prime UTR Variant
APTX transcript variant X3XM_006716791.3:c.N/AGenic Downstream Transcript Variant
APTX transcript variant X14XM_006716792.2:c.N/AGenic Downstream Transcript Variant
APTX transcript variant X15XM_011517938.1:c.N/AGenic Downstream Transcript Variant
APTX transcript variant X16XM_011517939.2:c.N/AGenic Downstream Transcript Variant
APTX transcript variant X2XM_017014832.1:c.N/AGenic Downstream Transcript Variant
APTX transcript variant X4XM_017014833.1:c.N/AGenic Downstream Transcript Variant
APTX transcript variant X6XM_017014834.1:c.N/AGenic Downstream Transcript Variant
APTX transcript variant X7XM_017014835.1:c.N/AGenic Downstream Transcript Variant
APTX transcript variant X9XM_017014836.1:c.N/AGenic Downstream Transcript Variant
APTX transcript variant X13XM_017014837.1:c.N/AGenic Downstream Transcript Variant
APTX transcript variant X24XM_017014838.1:c.N/AGenic Downstream Transcript Variant
APTX transcript variant X5XR_001746324.1:n.N/AGenic Downstream Transcript Variant
APTX transcript variant X11XR_001746325.1:n.N/AGenic Downstream Transcript Variant
APTX transcript variant X12XR_001746326.1:n.N/AGenic Downstream Transcript Variant
APTX transcript variant X17XR_428423.2:n.N/AGenic Downstream Transcript Variant
APTX transcript variant X8XR_929276.2:n.N/AGenic Downstream Transcript Variant
APTX transcript variant X10XR_929277.2:n.N/AGenic Downstream Transcript Variant
APTX transcript variant X23XR_929279.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.545T=0.455
1000GenomesAmericanSub694C=0.470T=0.530
1000GenomesEast AsianSub1008C=0.394T=0.606
1000GenomesEuropeSub1006C=0.640T=0.360
1000GenomesGlobalStudy-wide5008C=0.581T=0.419
1000GenomesSouth AsianSub978C=0.840T=0.160
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.680T=0.320
The Genome Aggregation DatabaseAfricanSub8694C=0.561T=0.439
The Genome Aggregation DatabaseAmericanSub836C=0.430T=0.570
The Genome Aggregation DatabaseEast AsianSub1610C=0.356T=0.644
The Genome Aggregation DatabaseEuropeSub18394C=0.637T=0.362
The Genome Aggregation DatabaseGlobalStudy-wide29834C=0.594T=0.405
The Genome Aggregation DatabaseOtherSub300C=0.680T=0.320
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.604T=0.396
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.670T=0.330
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs101227750.000729alcohol dependence20201924

eQTL of rs10122775 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 rs10122775 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 )
chr93286335932863675E071-21308

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr93288188132882003E067-2980
chr93288213732882187E067-2796
chr93288188132882003E068-2980
chr93288213732882187E068-2796
chr93288188132882003E069-2980
chr93288213732882187E069-2796
chr93288188132882003E071-2980
chr93288213732882187E071-2796
chr93288188132882003E072-2980
chr93288213732882187E072-2796
chr93288188132882003E074-2980
chr93288213732882187E074-2796