rs7010548

Homo sapiens
C>T
ST18 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0210 (25529/121358,ExAC)
T=0313 (9376/29914,GnomAD)
T=0410 (11955/29118,TOPMED)
C==0337 (4390/13006,GO-ESP)
T=0303 (1518/5008,1000G)
T=0169 (650/3854,ALSPAC)
T=0170 (631/3708,TWINSUK)
chr8:52142923 (GRCh38.p7) (8q11.23)
AD
GWASdb2
1   publication(s)
See rs on genome
161 Enhancers around
7 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.52142923C>T
GRCh37.p13 chr 8NC_000008.10:g.53055483C>T

Gene: ST18, suppression of tumorigenicity 18, zinc finger(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ST18 transcript variant 1NM_014682.2:c.N/AIntron Variant
ST18 transcript variant X9XM_006716487.1:c.N/AIntron Variant
ST18 transcript variant X2XM_011517629.1:c.N/AIntron Variant
ST18 transcript variant X12XM_011517631.1:c.N/AIntron Variant
ST18 transcript variant X3XM_011517632.1:c.N/AIntron Variant
ST18 transcript variant X4XM_011517633.1:c.N/AIntron Variant
ST18 transcript variant X11XM_011517634.1:c.N/AIntron Variant
ST18 transcript variant X2XM_011517635.1:c.N/AIntron Variant
ST18 transcript variant X7XM_011517636.2:c.N/AIntron Variant
ST18 transcript variant X5XM_011517637.1:c.N/AIntron Variant
ST18 transcript variant X33XM_011517638.2:c.N/AIntron Variant
ST18 transcript variant X6XM_011517641.1:c.N/AIntron Variant
ST18 transcript variant X7XM_011517642.1:c.N/AIntron Variant
ST18 transcript variant X1XM_017014047.1:c.N/AIntron Variant
ST18 transcript variant X5XM_017014048.1:c.N/AIntron Variant
ST18 transcript variant X6XM_017014049.1:c.N/AIntron Variant
ST18 transcript variant X8XM_017014050.1:c.N/AIntron Variant
ST18 transcript variant X10XM_017014051.1:c.N/AIntron Variant
ST18 transcript variant X13XM_017014052.1:c.N/AIntron Variant
ST18 transcript variant X14XM_017014053.1:c.N/AIntron Variant
ST18 transcript variant X15XM_017014054.1:c.N/AIntron Variant
ST18 transcript variant X16XM_017014055.1:c.N/AIntron Variant
ST18 transcript variant X17XM_017014056.1:c.N/AIntron Variant
ST18 transcript variant X18XM_017014057.1:c.N/AIntron Variant
ST18 transcript variant X1XM_017014058.1:c.N/AIntron Variant
ST18 transcript variant X20XM_017014059.1:c.N/AIntron Variant
ST18 transcript variant X21XM_017014060.1:c.N/AIntron Variant
ST18 transcript variant X22XM_017014061.1:c.N/AIntron Variant
ST18 transcript variant X23XM_017014062.1:c.N/AIntron Variant
ST18 transcript variant X24XM_017014063.1:c.N/AIntron Variant
ST18 transcript variant X25XM_017014064.1:c.N/AIntron Variant
ST18 transcript variant X27XM_017014065.1:c.N/AIntron Variant
ST18 transcript variant X28XM_017014066.1:c.N/AIntron Variant
ST18 transcript variant X29XM_017014067.1:c.N/AIntron Variant
ST18 transcript variant X30XM_017014068.1:c.N/AIntron Variant
ST18 transcript variant X32XM_017014069.1:c.N/AIntron Variant
ST18 transcript variant X34XM_017014070.1:c.N/AIntron Variant
ST18 transcript variant X35XM_017014071.1:c.N/AIntron Variant
ST18 transcript variant X36XM_017014072.1:c.N/AIntron Variant
ST18 transcript variant X37XM_017014073.1:c.N/AIntron Variant
ST18 transcript variant X38XM_017014074.1:c.N/AIntron Variant
ST18 transcript variant X40XM_017014075.1:c.N/AIntron Variant
ST18 transcript variant X41XM_017014076.1:c.N/AIntron Variant
ST18 transcript variant X42XM_017014077.1:c.N/AIntron Variant
ST18 transcript variant X43XM_017014078.1:c.N/AIntron Variant
ST18 transcript variant X44XM_017014079.1:c.N/AIntron Variant
ST18 transcript variant X45XM_017014080.1:c.N/AIntron Variant
ST18 transcript variant X47XM_017014081.1:c.N/AIntron Variant
ST18 transcript variant X48XM_017014082.1:c.N/AIntron Variant
ST18 transcript variant X49XM_017014083.1:c.N/AIntron Variant
ST18 transcript variant X50XM_017014084.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.265T=0.735
1000GenomesAmericanSub694C=0.840T=0.160
1000GenomesEast AsianSub1008C=0.949T=0.051
1000GenomesEuropeSub1006C=0.816T=0.184
1000GenomesGlobalStudy-wide5008C=0.697T=0.303
1000GenomesSouth AsianSub978C=0.800T=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.831T=0.169
The Exome Aggregation ConsortiumAmericanSub21976C=0.626T=0.373
The Exome Aggregation ConsortiumAsianSub25152C=0.844T=0.155
The Exome Aggregation ConsortiumEuropeSub73322C=0.819T=0.180
The Exome Aggregation ConsortiumGlobalStudy-wide121358C=0.789T=0.210
The Exome Aggregation ConsortiumOtherSub908C=0.800T=0.200
The Genome Aggregation DatabaseAfricanSub8680C=0.324T=0.676
The Genome Aggregation DatabaseAmericanSub834C=0.860T=0.140
The Genome Aggregation DatabaseEast AsianSub1620C=0.954T=0.046
The Genome Aggregation DatabaseEuropeSub18480C=0.825T=0.174
The Genome Aggregation DatabaseGlobalStudy-wide29914C=0.686T=0.313
The Genome Aggregation DatabaseOtherSub300C=0.680T=0.320
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.589T=0.410
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.830T=0.170
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
rs70105480.00031alcohol dependence20201924
rs70105480.00084alcohol dependence20201924

eQTL of rs7010548 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 rs7010548 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 )
chr85305930253059786E0673819
chr85305992053060030E0674437
chr85306308653063276E0677603
chr85306340153063553E0677918
chr85306359253063812E0678109
chr85306381853064047E0678335
chr85306411153064283E0678628
chr85306436253064568E0678879
chr85306464053064832E0679157
chr85306486353064976E0679380
chr85308598353086111E06730500
chr85308778053087831E06732297
chr85308792253088001E06732439
chr85308815853088198E06732675
chr85308598353086111E06830500
chr85308622453086718E06830741
chr85308689153086945E06831408
chr85308702653087268E06831543
chr85308730853087466E06831825
chr85308778053087831E06832297
chr85308792253088001E06832439
chr85308815853088198E06832675
chr85303739853037448E069-18035
chr85303751853037679E069-17804
chr85308598353086111E06930500
chr85308622453086718E06930741
chr85308689153086945E06931408
chr85308702653087268E06931543
chr85308730853087466E06931825
chr85308778053087831E06932297
chr85308792253088001E06932439
chr85308815853088198E06932675
chr85301960953019663E070-35820
chr85302477353025358E070-30125
chr85305826053058310E0702777
chr85305864353058693E0703160
chr85305872353058792E0703240
chr85305886753059256E0703384
chr85306289953063077E0707416
chr85306308653063276E0707603
chr85306340153063553E0707918
chr85306359253063812E0708109
chr85306381853064047E0708335
chr85306411153064283E0708628
chr85306436253064568E0708879
chr85306464053064832E0709157
chr85306486353064976E0709380
chr85308060553080655E07025122
chr85308092353080984E07025440
chr85308109653081179E07025613
chr85308319053083240E07027707
chr85308566653085727E07030183
chr85308622453086718E07030741
chr85308792253088001E07032439
chr85308815853088198E07032675
chr85309665653096753E07041173
chr85305864353058693E0713160
chr85305872353058792E0713240
chr85306219853062279E0716715
chr85306235753062423E0716874
chr85306252353062633E0717040
chr85306289953063077E0717416
chr85306308653063276E0717603
chr85306340153063553E0717918
chr85306359253063812E0718109
chr85306381853064047E0718335
chr85306411153064283E0718628
chr85306436253064568E0718879
chr85306464053064832E0719157
chr85306486353064976E0719380
chr85308598353086111E07130500
chr85308622453086718E07130741
chr85308689153086945E07131408
chr85308702653087268E07131543
chr85308730853087466E07131825
chr85308778053087831E07132297
chr85308792253088001E07132439
chr85308815853088198E07132675
chr85301960953019663E072-35820
chr85306252353062633E0727040
chr85306289953063077E0727416
chr85306308653063276E0727603
chr85306340153063553E0727918
chr85306359253063812E0728109
chr85306381853064047E0728335
chr85306411153064283E0728628
chr85306436253064568E0728879
chr85306464053064832E0729157
chr85306486353064976E0729380
chr85306579453065854E07210311
chr85306587453065924E07210391
chr85308598353086111E07230500
chr85308622453086718E07230741
chr85308689153086945E07231408
chr85308702653087268E07231543
chr85308730853087466E07231825
chr85308778053087831E07232297
chr85308792253088001E07232439
chr85308815853088198E07232675
chr85308908953089139E07233606
chr85309665653096753E07241173
chr85308598353086111E07330500
chr85308622453086718E07330741
chr85308778053087831E07332297
chr85308792253088001E07332439
chr85308815853088198E07332675
chr85301960953019663E074-35820
chr85302029853020380E074-35103
chr85302059753020669E074-34814
chr85305864353058693E0743160
chr85305872353058792E0743240
chr85306025553060430E0744772
chr85306061853060727E0745135
chr85306082053060874E0745337
chr85306099953061049E0745516
chr85306112153061193E0745638
chr85306133153061381E0745848
chr85306157853062032E0746095
chr85306219853062279E0746715
chr85306235753062423E0746874
chr85306308653063276E0747603
chr85306340153063553E0747918
chr85306359253063812E0748109
chr85306381853064047E0748335
chr85306411153064283E0748628
chr85306436253064568E0748879
chr85306464053064832E0749157
chr85306486353064976E0749380
chr85308598353086111E07430500
chr85308622453086718E07430741
chr85308689153086945E07431408
chr85308702653087268E07431543
chr85308730853087466E07431825
chr85308778053087831E07432297
chr85308792253088001E07432439
chr85308815853088198E07432675
chr85306289953063077E0817416
chr85306308653063276E0817603
chr85306340153063553E0817918
chr85306359253063812E0818109
chr85306381853064047E0818335
chr85306411153064283E0818628
chr85306436253064568E0818879
chr85306464053064832E0819157
chr85306486353064976E0819380
chr85306667053066720E08111187
chr85306677053067130E08111287
chr85306926653069316E08113783
chr85308778053087831E08132297
chr85308792253088001E08132439
chr85308815853088198E08132675
chr85306252353062633E0827040
chr85306359253063812E0828109
chr85306381853064047E0828335
chr85306411153064283E0828628
chr85306436253064568E0828879
chr85306464053064832E0829157
chr85308598353086111E08230500
chr85308622453086718E08230741
chr85308689153086945E08231408
chr85308702653087268E08231543










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr85301344753013991E068-41492
chr85301344753013991E069-41492
chr85301344753013991E070-41492
chr85301344753013991E071-41492
chr85301344753013991E072-41492
chr85301344753013991E074-41492
chr85301344753013991E082-41492