rs12102112

Homo sapiens
C>T
THSD4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0140 (4200/29948,GnomAD)
T=0122 (3565/29118,TOPMED)
T=0127 (637/5008,1000G)
T=0157 (605/3854,ALSPAC)
T=0154 (572/3708,TWINSUK)
chr15:71363396 (GRCh38.p7) (15q23)
AD
GWASdb2
1   publication(s)
See rs on genome
74 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.71363396C>T
GRCh37.p13 chr 15NC_000015.9:g.71655735C>T

Gene: THSD4, thrombospondin type 1 domain containing 4(plus strand)

Molecule type Change Amino acid[Codon] SO Term
THSD4 transcript variant 1NM_024817.2:c.N/AIntron Variant
THSD4 transcript variant 2NM_001286429.1:c.N/AGenic Upstream Transcript Variant
THSD4 transcript variant X1XM_006720692.3:c.N/AIntron Variant
THSD4 transcript variant X5XM_011522044.2:c.N/AIntron Variant
THSD4 transcript variant X2XM_017022582.1:c.N/AIntron Variant
THSD4 transcript variant X4XM_017022583.1:c.N/AIntron Variant
THSD4 transcript variant X7XM_017022585.1:c.N/AIntron Variant
THSD4 transcript variant X8XM_017022586.1:c.N/AIntron Variant
THSD4 transcript variant X3XM_011522043.2:c.N/AGenic Upstream Transcript Variant
THSD4 transcript variant X6XM_017022584.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.915T=0.085
1000GenomesAmericanSub694C=0.910T=0.090
1000GenomesEast AsianSub1008C=0.897T=0.103
1000GenomesEuropeSub1006C=0.855T=0.145
1000GenomesGlobalStudy-wide5008C=0.873T=0.127
1000GenomesSouth AsianSub978C=0.780T=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.843T=0.157
The Genome Aggregation DatabaseAfricanSub8718C=0.906T=0.094
The Genome Aggregation DatabaseAmericanSub838C=0.910T=0.090
The Genome Aggregation DatabaseEast AsianSub1616C=0.890T=0.110
The Genome Aggregation DatabaseEuropeSub18474C=0.833T=0.166
The Genome Aggregation DatabaseGlobalStudy-wide29948C=0.859T=0.140
The Genome Aggregation DatabaseOtherSub302C=0.850T=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.877T=0.122
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.846T=0.154
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs121021120.000643alcohol dependence21314694

eQTL of rs12102112 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 rs12102112 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 )
chr157170415171704925E06748416
chr157168007271680144E06824337
chr157168015171680281E06824416
chr157168033471680639E06824599
chr157168386471684433E06828129
chr157168444271684672E06828707
chr157168469971684946E06828964
chr157168498371685127E06829248
chr157168514671685717E06829411
chr157168577171685970E06830036
chr157168609571686178E06830360
chr157170401871704137E06848283
chr157168386471684433E06928129
chr157168444271684672E06928707
chr157168469971684946E06928964
chr157168498371685127E06929248
chr157168514671685717E06929411
chr157168577171685970E06930036
chr157168609571686178E06930360
chr157170415171704925E06948416
chr157167698271677294E07021247
chr157167730271678132E07021567
chr157167817471678256E07022439
chr157167838671679735E07022651
chr157167978171679909E07024046
chr157168007271680144E07024337
chr157168015171680281E07024416
chr157168372571683839E07027990
chr157168386471684433E07028129
chr157168444271684672E07028707
chr157168469971684946E07028964
chr157168577171685970E07030036
chr157168609571686178E07030360
chr157168653571686585E07030800
chr157168699471687149E07031259
chr157170415171704925E07048416
chr157168386471684433E07128129
chr157168444271684672E07128707
chr157168469971684946E07128964
chr157168498371685127E07129248
chr157168514671685717E07129411
chr157168577171685970E07130036
chr157168444271684672E07328707
chr157168514671685717E07329411
chr157168577171685970E07330036
chr157170415171704925E07348416
chr157170415171704925E07448416
chr157167667971676729E08120944
chr157167698271677294E08121247
chr157167730271678132E08121567
chr157167817471678256E08122439
chr157167838671679735E08122651
chr157168372571683839E08127990
chr157168386471684433E08128129
chr157168444271684672E08128707
chr157168469971684946E08128964
chr157168498371685127E08129248
chr157168514671685717E08129411
chr157168577171685970E08130036
chr157168839671688446E08132661
chr157163683471636917E082-18818
chr157163700071637050E082-18685
chr157163720471637260E082-18475
chr157167698271677294E08221247
chr157167730271678132E08221567
chr157167817471678256E08222439
chr157167838671679735E08222651
chr157167978171679909E08224046
chr157168386471684433E08228129
chr157168444271684672E08228707
chr157168469971684946E08228964
chr157168498371685127E08229248
chr157168514671685717E08229411
chr157168577171685970E08230036