rs17362650

Homo sapiens
T>C
ADAM17 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0228 (6850/29928,GnomAD)
C=0207 (6052/29116,TOPMED)
C=0152 (763/5008,1000G)
C=0316 (1219/3854,ALSPAC)
C=0315 (1168/3708,TWINSUK)
chr2:9536284 (GRCh38.p7) (2p25.1)
AD
GWASdb2 | GWASCatalog
1   publication(s)
See rs on genome
35 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.9536284T>C
GRCh37.p13 chr 2NC_000002.11:g.9676413T>C
ADAM17 RefSeqGene LRG_1203

Gene: ADAM17, ADAM metallopeptidase domain 17(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ADAM17 transcriptNM_003183.5:c.N/AIntron Variant
ADAM17 transcript variant X1XM_011510375.2:c.N/AIntron Variant
ADAM17 transcript variant X2XM_011510376.2:c.N/AIntron Variant
ADAM17 transcript variant X3XM_017004785.1:c.N/AIntron Variant
ADAM17 transcript variant X4XM_017004786.1:c.N/AIntron Variant
ADAM17 transcript variant X5XM_011510377.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.927C=0.073
1000GenomesAmericanSub694T=0.830C=0.170
1000GenomesEast AsianSub1008T=0.998C=0.002
1000GenomesEuropeSub1006T=0.681C=0.319
1000GenomesGlobalStudy-wide5008T=0.848C=0.152
1000GenomesSouth AsianSub978T=0.770C=0.230
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.684C=0.316
The Genome Aggregation DatabaseAfricanSub8728T=0.886C=0.114
The Genome Aggregation DatabaseAmericanSub834T=0.870C=0.130
The Genome Aggregation DatabaseEast AsianSub1620T=0.997C=0.003
The Genome Aggregation DatabaseEuropeSub18444T=0.693C=0.306
The Genome Aggregation DatabaseGlobalStudy-wide29928T=0.771C=0.228
The Genome Aggregation DatabaseOtherSub302T=0.720C=0.280
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.792C=0.207
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.685C=0.315
PMID Title Author Journal
24962325Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.Kapoor MDrug Alcohol Depend

P-Value

SNP ID p-value Traits Study
rs173626508E-06alcohol dependence (age at onset)24962325

eQTL of rs17362650 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:9676413ADAM17ENSG00000151694.8T>C6.4192e-6-19508Cerebellum

meQTL of rs17362650 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 )
chr296652419665321E067-11092
chr296923559692482E06715942
chr296925189693070E06716105
chr296931159693299E06716702
chr296933359693442E06716922
chr296938869693943E06717473
chr296373449637460E068-38953
chr296375409637591E068-38822
chr296652419665321E068-11092
chr296654109665812E068-10601
chr296837719683944E0687358
chr296923559692482E06815942
chr297141209715025E06837707
chr296652419665321E069-11092
chr296654109665812E069-10601
chr296874699687849E06911056
chr296923559692482E06915942
chr296925189693070E06916105
chr296931159693299E06916702
chr296933359693442E06916922
chr296923559692482E07015942
chr296652419665321E071-11092
chr296654109665812E071-10601
chr296923559692482E07115942
chr296925189693070E07116105
chr296931159693299E07116702
chr296933359693442E07116922
chr296860609686181E0729647
chr296373449637460E073-38953
chr296375409637591E073-38822
chr296885069688653E07312093
chr296923559692482E07315942
chr296925189693070E07316105
chr296495979649692E074-26721
chr296500609650246E074-26167








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr296949289696451E06718515
chr296964679697018E06720054
chr296949289696451E06818515
chr296964679697018E06820054
chr296949289696451E06918515
chr296964679697018E06920054
chr296949289696451E07018515
chr296964679697018E07020054
chr296949289696451E07118515
chr296964679697018E07120054
chr296949289696451E07218515
chr296964679697018E07220054
chr296949289696451E07318515
chr296964679697018E07320054
chr296949289696451E07418515
chr296964679697018E07420054
chr296949289696451E08118515
chr296964679697018E08120054
chr296949289696451E08218515
chr296964679697018E08220054