rs11195397

Homo sapiens
C>T
SHOC2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0216 (6459/29902,GnomAD)
T=0272 (7946/29118,TOPMED)
T=0393 (1968/5008,1000G)
T=0083 (318/3854,ALSPAC)
T=0080 (296/3708,TWINSUK)
chr10:110990871 (GRCh38.p7) (10q25.2)
AD
GWASdb2
1   publication(s)
See rs on genome
41 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.110990871C>T
GRCh37.p13 chr 10NC_000010.10:g.112750629C>T
SHOC2 RefSeqGene LRG_753

Gene: SHOC2, SHOC2 leucine-rich repeat scaffold protein(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SHOC2 transcript variant 2NM_001269039.2:c.N/AIntron Variant
SHOC2 transcript variant 3NM_001324336.1:c.N/AIntron Variant
SHOC2 transcript variant 4NM_001324337.1:c.N/AIntron Variant
SHOC2 transcript variant 1NM_007373.3:c.N/AIntron Variant
SHOC2 transcript variant 5NR_136749.1:n.N/AIntron Variant
SHOC2 transcript variant X1XM_017016702.1:c.N/AIntron Variant
SHOC2 transcript variant X2XM_017016703.1:c.N/AIntron Variant
SHOC2 transcript variant X3XM_017016704.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.477T=0.523
1000GenomesAmericanSub694C=0.710T=0.290
1000GenomesEast AsianSub1008C=0.434T=0.566
1000GenomesEuropeSub1006C=0.921T=0.079
1000GenomesGlobalStudy-wide5008C=0.607T=0.393
1000GenomesSouth AsianSub978C=0.560T=0.440
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.917T=0.083
The Genome Aggregation DatabaseAfricanSub8698C=0.538T=0.462
The Genome Aggregation DatabaseAmericanSub832C=0.730T=0.270
The Genome Aggregation DatabaseEast AsianSub1610C=0.466T=0.534
The Genome Aggregation DatabaseEuropeSub18460C=0.927T=0.072
The Genome Aggregation DatabaseGlobalStudy-wide29902C=0.784T=0.216
The Genome Aggregation DatabaseOtherSub302C=0.920T=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.727T=0.272
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.920T=0.080
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
rs111953970.00033alcohol dependence20201924

eQTL of rs11195397 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 rs11195397 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 )
chr10112714588112714638E067-35991
chr10112714894112714944E067-35685
chr10112715108112715158E067-35471
chr10112751654112751721E0671025
chr10112751748112751820E0671119
chr10112751869112752049E0671240
chr10112752130112752543E0671501
chr10112752750112753242E0672121
chr10112705624112705674E068-44955
chr10112752130112752543E0681501
chr10112752750112753242E0682121
chr10112729034112729088E069-21541
chr10112752130112752543E0691501
chr10112752750112753242E0692121
chr10112704475112704851E071-45778
chr10112704854112705053E071-45576
chr10112705060112705216E071-45413
chr10112724519112724569E071-26060
chr10112738545112738589E071-12040
chr10112752750112753242E0712121
chr10112704854112705053E072-45576
chr10112705060112705216E072-45413
chr10112745774112745996E072-4633
chr10112746751112746811E072-3818
chr10112746895112746975E072-3654
chr10112747029112747091E072-3538
chr10112747179112747259E072-3370
chr10112752750112753242E0722121
chr10112732468112732528E074-18101
chr10112732653112732703E074-17926
chr10112732780112732854E074-17775
chr10112751748112751820E0741119
chr10112751869112752049E0741240
chr10112752130112752543E0741501
chr10112752750112753242E0742121
chr10112719297112719375E082-31254
chr10112719758112720045E082-30584
chr10112726725112726775E082-23854
chr10112726915112727020E082-23609
chr10112727069112727119E082-23510
chr10112730071112730197E082-20432