rs12247601

Homo sapiens
T>C
ITIH5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0216 (6498/29972,GnomAD)
C=0241 (7034/29118,TOPMED)
C=0291 (1458/5008,1000G)
C=0131 (504/3854,ALSPAC)
C=0148 (550/3708,TWINSUK)
chr10:7569535 (GRCh38.p7) (10p14)
AD
GWASdb2
1   publication(s)
See rs on genome
160 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.7569535T>C
GRCh37.p13 chr 10NC_000010.10:g.7611498T>C

Gene: ITIH5, inter-alpha-trypsin inhibitor heavy chain family member 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ITIH5 transcript variant 1NM_030569.6:c.N/AIntron Variant
ITIH5 transcript variant 2NM_032817.5:c.N/AIntron Variant
ITIH5 transcript variant 3NM_001001851.2:c.N/AGenic Downstream Transcript Variant
ITIH5 transcript variant X1XM_011519713.2:c.N/AIntron Variant
ITIH5 transcript variant X2XM_011519714.2:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.628C=0.372
1000GenomesAmericanSub694T=0.700C=0.300
1000GenomesEast AsianSub1008T=0.599C=0.401
1000GenomesEuropeSub1006T=0.873C=0.127
1000GenomesGlobalStudy-wide5008T=0.709C=0.291
1000GenomesSouth AsianSub978T=0.770C=0.230
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.869C=0.131
The Genome Aggregation DatabaseAfricanSub8724T=0.665C=0.335
The Genome Aggregation DatabaseAmericanSub838T=0.780C=0.220
The Genome Aggregation DatabaseEast AsianSub1620T=0.543C=0.457
The Genome Aggregation DatabaseEuropeSub18488T=0.858C=0.141
The Genome Aggregation DatabaseGlobalStudy-wide29972T=0.783C=0.216
The Genome Aggregation DatabaseOtherSub302T=0.900C=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.758C=0.241
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.852C=0.148
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
rs122476018.1E-05alcoholism (heaviness of drinking)21529783

eQTL of rs12247601 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 rs12247601 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 )
chr1075750017575051E067-36447
chr1075751197575223E067-36275
chr1075854267585514E067-25984
chr1075855907585640E067-25858
chr1075858527585907E067-25591
chr1075860697586163E067-25335
chr1075862357586504E067-24994
chr1075937297594657E067-16841
chr1075949687595022E067-16476
chr1075951307595183E067-16315
chr1075953187595368E067-16130
chr1076047017606087E067-5411
chr1076065687606625E067-4873
chr1076381197638774E06726621
chr1075670177567071E068-44427
chr1075670837567133E068-44365
chr1075671447568178E068-43320
chr1075681977568283E068-43215
chr1075846157585339E068-26159
chr1075854267585514E068-25984
chr1075855907585640E068-25858
chr1075858527585907E068-25591
chr1075860697586163E068-25335
chr1075862357586504E068-24994
chr1075865377586651E068-24847
chr1075873427587605E068-23893
chr1075878557588039E068-23459
chr1075902007590257E068-21241
chr1075903137590385E068-21113
chr1075920107592279E068-19219
chr1075933337593636E068-17862
chr1075937297594657E068-16841
chr1075949687595022E068-16476
chr1075951307595183E068-16315
chr1076030077604657E068-6841
chr1076047017606087E068-5411
chr1076065687606625E068-4873
chr1076067667606816E068-4682
chr1076348957634974E06823397
chr1076350197635310E06823521
chr1076524217653213E06840923
chr1075750017575051E069-36447
chr1075751197575223E069-36275
chr1075753347575618E069-35880
chr1075757147576231E069-35267
chr1075854267585514E069-25984
chr1075855907585640E069-25858
chr1075858527585907E069-25591
chr1075860697586163E069-25335
chr1075862357586504E069-24994
chr1075865377586651E069-24847
chr1075920107592279E069-19219
chr1075933337593636E069-17862
chr1075937297594657E069-16841
chr1076047017606087E069-5411
chr1076065687606625E069-4873
chr1076137537614737E0692255
chr1076381197638774E06926621
chr1076521067652298E06940608
chr1076524217653213E06940923
chr1075625337562604E070-48894
chr1075626527562733E070-48765
chr1075628077563005E070-48493
chr1075670177567071E070-44427
chr1075670837567133E070-44365
chr1075933337593636E070-17862
chr1075937297594657E070-16841
chr1076030077604657E070-6841
chr1076047017606087E070-5411
chr1076099937610148E070-1350
chr1076101677610445E070-1053
chr1076105647610665E070-833
chr1076515687651955E07040070
chr1076521067652298E07040608
chr1076524217653213E07040923
chr1075670177567071E071-44427
chr1075670837567133E071-44365
chr1075751197575223E071-36275
chr1075753347575618E071-35880
chr1075757147576231E071-35267
chr1075846157585339E071-26159
chr1075854267585514E071-25984
chr1075855907585640E071-25858
chr1075858527585907E071-25591
chr1075860697586163E071-25335
chr1075862357586504E071-24994
chr1075865377586651E071-24847
chr1075873427587605E071-23893
chr1075920107592279E071-19219
chr1075933337593636E071-17862
chr1075937297594657E071-16841
chr1075949687595022E071-16476
chr1075951307595183E071-16315
chr1076025287602852E071-8646
chr1076030077604657E071-6841
chr1076047017606087E071-5411
chr1076065687606625E071-4873
chr1076137537614737E0712255
chr1076347157634765E07123217
chr1076348957634974E07123397
chr1076350197635310E07123521
chr1076521067652298E07140608
chr1075750017575051E072-36447
chr1075858527585907E072-25591
chr1075860697586163E072-25335
chr1075862357586504E072-24994
chr1075865377586651E072-24847
chr1075920107592279E072-19219
chr1075933337593636E072-17862
chr1075937297594657E072-16841
chr1076030077604657E072-6841
chr1076047017606087E072-5411
chr1076065687606625E072-4873
chr1076067667606816E072-4682
chr1076137537614737E0722255
chr1076524217653213E07240923
chr1075827687584432E073-27066
chr1075933337593636E073-17862
chr1075937297594657E073-16841
chr1075949687595022E073-16476
chr1075951307595183E073-16315
chr1076030077604657E073-6841
chr1076047017606087E073-5411
chr1076065687606625E073-4873
chr1076524217653213E07340923
chr1075748087574877E074-36621
chr1075750017575051E074-36447
chr1075751197575223E074-36275
chr1075753347575618E074-35880
chr1075846157585339E074-26159
chr1075854267585514E074-25984
chr1075855907585640E074-25858
chr1075858527585907E074-25591
chr1075860697586163E074-25335
chr1075862357586504E074-24994
chr1075865377586651E074-24847
chr1075920107592279E074-19219
chr1075933337593636E074-17862
chr1075937297594657E074-16841
chr1075949687595022E074-16476
chr1075951307595183E074-16315
chr1076030077604657E074-6841
chr1076047017606087E074-5411
chr1076065687606625E074-4873
chr1076067667606816E074-4682
chr1076381197638774E07426621
chr1075915807591669E081-19829
chr1075918107591928E081-19570
chr1075920107592279E081-19219
chr1075933337593636E081-17862
chr1075937297594657E081-16841
chr1076047017606087E081-5411
chr1076515687651955E08140070
chr1076521067652298E08140608
chr1076524217653213E08140923
chr1075933337593636E082-17862
chr1075937297594657E082-16841
chr1076515687651955E08240070
chr1076521067652298E08240608
chr1076524217653213E08240923