rs4473307

Homo sapiens
T>G
PPP6R1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0399 (11927/29890,GnomAD)
G=0425 (12398/29118,TOPMED)
G=0322 (1613/5008,1000G)
G=0491 (1892/3854,ALSPAC)
G=0498 (1847/3708,TWINSUK)
chr19:55255438 (GRCh38.p7) (19q13.42)
AD
GWASdb2
1   publication(s)
See rs on genome
109 Enhancers around
47 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.55255438T>G
GRCh37.p13 chr 19NC_000019.9:g.55766806T>G

Gene: PPP6R1, protein phosphatase 6 regulatory subunit 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PPP6R1 transcriptNM_014931.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.674G=0.326
1000GenomesAmericanSub694T=0.630G=0.370
1000GenomesEast AsianSub1008T=0.898G=0.102
1000GenomesEuropeSub1006T=0.512G=0.488
1000GenomesGlobalStudy-wide5008T=0.678G=0.322
1000GenomesSouth AsianSub978T=0.660G=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.509G=0.491
The Genome Aggregation DatabaseAfricanSub8698T=0.638G=0.362
The Genome Aggregation DatabaseAmericanSub836T=0.610G=0.390
The Genome Aggregation DatabaseEast AsianSub1618T=0.900G=0.100
The Genome Aggregation DatabaseEuropeSub18436T=0.559G=0.440
The Genome Aggregation DatabaseGlobalStudy-wide29890T=0.601G=0.399
The Genome Aggregation DatabaseOtherSub302T=0.420G=0.580
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.574G=0.425
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.502G=0.498
PMID Title Author Journal
22072270Genome-wide association study identifies 5q21 and 9p24.1 (KDM4C) loci associated with alcohol withdrawal symptoms.Wang KSJ Neural Transm (Vienna)

P-Value

SNP ID p-value Traits Study
rs44733078.6E-05alcohol withdrawal symptoms22072270

eQTL of rs4473307 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 rs4473307 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 )
chr195575893355759831E067-6975
chr195575997555760036E067-6770
chr195576015755760256E067-6550
chr195576032055760398E067-6408
chr195579750955797595E06730703
chr195579771255797769E06730906
chr195579814755798191E06731341
chr195579822055798357E06731414
chr195579843255798493E06731626
chr195579915755799238E06732351
chr195579941255799460E06732606
chr195580042855800618E06733622
chr195580062355800753E06733817
chr195581225455812907E06745448
chr195575997555760036E068-6770
chr195576015755760256E068-6550
chr195576032055760398E068-6408
chr195576208855762138E068-4668
chr195576236055762400E068-4406
chr195576244955762515E068-4291
chr195577150755771600E0684701
chr195578169655781930E06814890
chr195578196755782059E06815161
chr195580042855800618E06833622
chr195580062355800753E06833817
chr195580088655800996E06834080
chr195580308055803261E06836274
chr195580336555803861E06836559
chr195581155655811765E06844750
chr195577150755771600E0694701
chr195579469255794776E06927886
chr195579750955797595E06930703
chr195579771255797769E06930906
chr195580042855800618E06933622
chr195580062355800753E06933817
chr195580088655800996E06934080
chr195581225455812907E06945448
chr195577177455771830E0704968
chr195577185155771907E0705045
chr195579469255794776E07027886
chr195579750955797595E07030703
chr195575893355759831E071-6975
chr195575997555760036E071-6770
chr195576015755760256E071-6550
chr195576032055760398E071-6408
chr195576049155760541E071-6265
chr195576425555764314E071-2492
chr195577150755771600E0714701
chr195579469255794776E07127886
chr195579750955797595E07130703
chr195579843255798493E07131626
chr195580042855800618E07133622
chr195580062355800753E07133817
chr195580088655800996E07134080
chr195580290955803048E07136103
chr195580336555803861E07136559
chr195581137155811432E07144565
chr195581155655811765E07144750
chr195581225455812907E07145448
chr195575997555760036E072-6770
chr195576015755760256E072-6550
chr195576032055760398E072-6408
chr195576425555764314E072-2492
chr195579750955797595E07230703
chr195579814755798191E07231341
chr195579843255798493E07231626
chr195580042855800618E07233622
chr195580062355800753E07233817
chr195580088655800996E07234080
chr195580336555803861E07236559
chr195581137155811432E07244565
chr195581155655811765E07244750
chr195581225455812907E07245448
chr195578082755781096E07314021
chr195578118355781237E07314377
chr195578169655781930E07314890
chr195578196755782059E07315161
chr195579750955797595E07330703
chr195579814755798191E07331341
chr195580042855800618E07333622
chr195580062355800753E07333817
chr195580088655800996E07334080
chr195581126155811315E07344455
chr195581137155811432E07344565
chr195581155655811765E07344750
chr195581225455812907E07345448
chr195581382355813880E07347017
chr195576425555764314E074-2492
chr195579469255794776E07427886
chr195579750955797595E07430703
chr195579771255797769E07430906
chr195579814755798191E07431341
chr195579822055798357E07431414
chr195579843255798493E07431626
chr195580042855800618E07433622
chr195580062355800753E07433817
chr195580088655800996E07434080
chr195581126155811315E07444455
chr195581137155811432E07444565
chr195581155655811765E07444750
chr195581225455812907E07445448
chr195572939155729477E081-37329
chr195577150755771600E0814701
chr195579469255794776E08127886
chr195579750955797595E08130703
chr195579771255797769E08130906
chr195572939155729477E082-37329
chr195579389255794067E08227086
chr195581225455812907E08245448










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr195576849955771455E0671693
chr195579087955793053E06724073
chr195579496355795591E06728157
chr195579575555795820E06728949
chr195579588255796356E06729076
chr195576849955771455E0681693
chr195579087955793053E06824073
chr195579496355795591E06828157
chr195579575555795820E06828949
chr195579588255796356E06829076
chr195576849955771455E0691693
chr195579087955793053E06924073
chr195579496355795591E06928157
chr195579575555795820E06928949
chr195579588255796356E06929076
chr195579926855799381E06932462
chr195576849955771455E0701693
chr195579496355795591E07028157
chr195579575555795820E07028949
chr195579588255796356E07029076
chr195576849955771455E0711693
chr195579087955793053E07124073
chr195579496355795591E07128157
chr195579575555795820E07128949
chr195579588255796356E07129076
chr195576849955771455E0721693
chr195579087955793053E07224073
chr195579496355795591E07228157
chr195579575555795820E07228949
chr195579588255796356E07229076
chr195579926855799381E07232462
chr195576849955771455E0731693
chr195579087955793053E07324073
chr195579496355795591E07328157
chr195579575555795820E07328949
chr195579588255796356E07329076
chr195576849955771455E0741693
chr195579087955793053E07424073
chr195579496355795591E07428157
chr195579575555795820E07428949
chr195579588255796356E07429076
chr195579926855799381E07432462
chr195576849955771455E0821693
chr195579087955793053E08224073
chr195579496355795591E08228157
chr195579575555795820E08228949
chr195579588255796356E08229076