rs16844280

Homo sapiens
C>T
RGS12 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0054 (1646/29982,GnomAD)
T=0066 (1942/29118,TOPMED)
T=0094 (472/5008,1000G)
T=0035 (133/3854,ALSPAC)
T=0031 (115/3708,TWINSUK)
chr4:3407297 (GRCh38.p7) (4p16.3)
AD
GWASdb2
1   publication(s)
See rs on genome
197 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.3407297C>T
GRCh37.p13 chr 4NC_000004.11:g.3409024C>T
RGS12 RefSeqGeneNG_029903.1:g.98151C>T

Gene: RGS12, regulator of G-protein signaling 12(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RGS12 transcript variant 2NM_002926.3:c.N/AIntron Variant
RGS12 transcript variant 3NM_198227.1:c.N/AIntron Variant
RGS12 transcript variant 1NM_198229.2:c.N/AIntron Variant
RGS12 transcript variant X1XM_006713905.1:c.N/AIntron Variant
RGS12 transcript variant X3XM_006713906.2:c.N/AIntron Variant
RGS12 transcript variant X8XM_006713907.1:c.N/AIntron Variant
RGS12 transcript variant X9XM_011513543.2:c.N/AIntron Variant
RGS12 transcript variant X2XM_017008529.1:c.N/AIntron Variant
RGS12 transcript variant X9XM_017008531.1:c.N/AIntron Variant
RGS12 transcript variant X11XM_017008532.1:c.N/AIntron Variant
RGS12 transcript variant X12XM_017008533.1:c.N/AIntron Variant
RGS12 transcript variant X13XM_017008534.1:c.N/AIntron Variant
RGS12 transcript variant X7XM_017008530.1:c.N/AGenic Downstream Transcript Variant
RGS12 transcript variant X5XR_427479.2:n.N/AIntron Variant
RGS12 transcript variant X6XR_924987.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.889T=0.111
1000GenomesAmericanSub694C=0.930T=0.070
1000GenomesEast AsianSub1008C=0.904T=0.096
1000GenomesEuropeSub1006C=0.957T=0.043
1000GenomesGlobalStudy-wide5008C=0.906T=0.094
1000GenomesSouth AsianSub978C=0.860T=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.965T=0.035
The Genome Aggregation DatabaseAfricanSub8726C=0.911T=0.089
The Genome Aggregation DatabaseAmericanSub836C=0.930T=0.070
The Genome Aggregation DatabaseEast AsianSub1618C=0.902T=0.098
The Genome Aggregation DatabaseEuropeSub18502C=0.967T=0.032
The Genome Aggregation DatabaseGlobalStudy-wide29982C=0.945T=0.054
The Genome Aggregation DatabaseOtherSub300C=0.860T=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.933T=0.066
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.969T=0.031
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
rs168442800.000268alcohol dependence20201924

eQTL of rs16844280 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 rs16844280 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 )
chr433705923370695E067-38329
chr433707093370766E067-38258
chr433888723389014E067-20010
chr433891663389269E067-19755
chr433893483390285E067-18739
chr434158383416028E0676814
chr434162403416454E0677216
chr433662173366265E068-42759
chr433662713366334E068-42690
chr433664803366560E068-42464
chr433705923370695E068-38329
chr433707093370766E068-38258
chr433744093374583E068-34441
chr433746933374976E068-34048
chr433775043377761E068-31263
chr433861603388679E068-20345
chr433915633391626E068-17398
chr433920673392166E068-16858
chr433923633392559E068-16465
chr434014503401500E068-7524
chr434016393401814E068-7210
chr434081773408227E068-797
chr434088463409153E0680
chr434104743410735E0681450
chr434108613410911E0681837
chr434142233414317E0685199
chr434150273415356E0686003
chr434155273415677E0686503
chr434157453415799E0686721
chr434158383416028E0686814
chr434162403416454E0687216
chr434165253417011E0687501
chr434170753417393E0688051
chr434382093438269E06829185
chr434383283438513E06829304
chr434385853439153E06829561
chr433662173366265E069-42759
chr433662713366334E069-42690
chr433705923370695E069-38329
chr433707093370766E069-38258
chr433746933374976E069-34048
chr433888723389014E069-20010
chr433891663389269E069-19755
chr433893483390285E069-18739
chr433903693391192E069-17832
chr433915633391626E069-17398
chr434081773408227E069-797
chr434088463409153E0690
chr434150273415356E0696003
chr434155273415677E0696503
chr434157453415799E0696721
chr434158383416028E0696814
chr434162403416454E0697216
chr434165253417011E0697501
chr433648343364884E070-44140
chr433651063365240E070-43784
chr433653483365427E070-43597
chr433654703365635E070-43389
chr433656443365784E070-43240
chr433662173366265E070-42759
chr433662713366334E070-42690
chr433664803366560E070-42464
chr433686803368754E070-40270
chr433688103369160E070-39864
chr433695363369592E070-39432
chr433728063373537E070-35487
chr433744093374583E070-34441
chr433746933374976E070-34048
chr433888723389014E070-20010
chr433891663389269E070-19755
chr433893483390285E070-18739
chr433903693391192E070-17832
chr433915633391626E070-17398
chr433920673392166E070-16858
chr433923633392559E070-16465
chr434088463409153E0700
chr434104743410735E0701450
chr434116623411742E0702638
chr434121203412233E0703096
chr434124103412490E0703386
chr433656443365784E071-43240
chr433662173366265E071-42759
chr433662713366334E071-42690
chr433664803366560E071-42464
chr433695363369592E071-39432
chr433705923370695E071-38329
chr433707093370766E071-38258
chr433744093374583E071-34441
chr433746933374976E071-34048
chr433760913376131E071-32893
chr433888723389014E071-20010
chr433891663389269E071-19755
chr433920673392166E071-16858
chr434142233414317E0715199
chr434150273415356E0716003
chr434155273415677E0716503
chr434157453415799E0716721
chr434158383416028E0716814
chr434162403416454E0717216
chr434165253417011E0717501
chr434415063441581E07132482
chr434419363442019E07132912
chr433705923370695E072-38329
chr433707093370766E072-38258
chr433744093374583E072-34441
chr433888723389014E072-20010
chr433891663389269E072-19755
chr434041293404355E072-4669
chr434043573404495E072-4529
chr434045333404915E072-4109
chr434142233414317E0725199
chr434150273415356E0726003
chr434155273415677E0726503
chr434165253417011E0727501
chr434170753417393E0728051
chr434234323423554E07214408
chr433705923370695E073-38329
chr433707093370766E073-38258
chr433740123374106E073-34918
chr433744093374583E073-34441
chr433746933374976E073-34048
chr433760913376131E073-32893
chr433861603388679E073-20345
chr433903693391192E073-17832
chr434081773408227E073-797
chr434142233414317E0735199
chr434155273415677E0736503
chr434157453415799E0736721
chr434158383416028E0736814
chr434170753417393E0738051
chr433705923370695E074-38329
chr433707093370766E074-38258
chr433728063373537E074-35487
chr433736013373755E074-35269
chr433888723389014E074-20010
chr433891663389269E074-19755
chr433893483390285E074-18739
chr434142233414317E0745199
chr434150273415356E0746003
chr434155273415677E0746503
chr434157453415799E0746721
chr434158383416028E0746814
chr434451333445593E07436109
chr433603563360416E081-48608
chr433605073360693E081-48331
chr433608433360898E081-48126
chr433648343364884E081-44140
chr433651063365240E081-43784
chr433653483365427E081-43597
chr433654703365635E081-43389
chr433656443365784E081-43240
chr433671293367207E081-41817
chr433686803368754E081-40270
chr433688103369160E081-39864
chr433695363369592E081-39432
chr433705923370695E081-38329
chr433707093370766E081-38258
chr433736013373755E081-35269
chr433740123374106E081-34918
chr433888723389014E081-20010
chr433891663389269E081-19755
chr433893483390285E081-18739
chr433903693391192E081-17832
chr433915633391626E081-17398
chr434081773408227E081-797
chr434088463409153E0810
chr434116623411742E0812638
chr434121203412233E0813096
chr434124103412490E0813386
chr434150273415356E0816003
chr434155273415677E0816503
chr434157453415799E0816721
chr434158383416028E0816814
chr434162403416454E0817216
chr434165253417011E0817501
chr434170753417393E0818051
chr433648343364884E082-44140
chr433651063365240E082-43784
chr433653483365427E082-43597
chr433654703365635E082-43389
chr433656443365784E082-43240
chr433686803368754E082-40270
chr433688103369160E082-39864
chr433695363369592E082-39432
chr433740123374106E082-34918
chr433744093374583E082-34441
chr433746933374976E082-34048
chr433893483390285E082-18739
chr433903693391192E082-17832
chr434081773408227E082-797
chr434088463409153E0820
chr434108613410911E0821837
chr434116623411742E0822638
chr434121203412233E0823096
chr434124103412490E0823386
chr434362493436303E08227225
chr434364003436454E08227376