rs6060124

Homo sapiens
C>A
GSS : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0275 (8202/29754,GnomAD)
A=0260 (7573/29118,TOPMED)
A=0258 (1294/5008,1000G)
A=0297 (1146/3854,ALSPAC)
A=0296 (1097/3708,TWINSUK)
chr20:34949094 (GRCh38.p7) (20q11.22)
AD
GWASdb2
3   publication(s)
See rs on genome
204 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.34949094C>A
GRCh37.p13 chr 20NC_000020.10:g.33536897C>A
GSS RefSeqGeneNG_008848.1:g.11705G>T

Gene: GSS, glutathione synthetase(minus strand)

Molecule type Change Amino acid[Codon] SO Term
GSS transcript variant 1NM_000178.3:c.N/AIntron Variant
GSS transcript variant 2NM_001322494.1:c.N/AIntron Variant
GSS transcript variant 3NM_001322495.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.697A=0.303
1000GenomesAmericanSub694C=0.860A=0.140
1000GenomesEast AsianSub1008C=0.778A=0.222
1000GenomesEuropeSub1006C=0.767A=0.233
1000GenomesGlobalStudy-wide5008C=0.742A=0.258
1000GenomesSouth AsianSub978C=0.660A=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.703A=0.297
The Genome Aggregation DatabaseAfricanSub8686C=0.694A=0.306
The Genome Aggregation DatabaseAmericanSub832C=0.860A=0.140
The Genome Aggregation DatabaseEast AsianSub1612C=0.777A=0.223
The Genome Aggregation DatabaseEuropeSub18324C=0.727A=0.273
The Genome Aggregation DatabaseGlobalStudy-wide29754C=0.724A=0.275
The Genome Aggregation DatabaseOtherSub300C=0.800A=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.739A=0.260
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.704A=0.296
PMID Title Author Journal
27896277Prediction of Bacillus Calmette-Guerin Response in Patients with Bladder Cancer after Transurethral Resection of Bladder Tumor by Using Genetic Variation Based on Genomic Studies.Zhang NBiomed Res Int
20802163Genetic variation in the glutathione synthesis pathway, air pollution, and children's lung function growth.Breton CVAm J Respir Crit Care Med
23089632A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53.Wang JCMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs60601240.000000441alcohol dependence23089632
rs60601240.000203alcohol dependence23089632

eQTL of rs6060124 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr20:33536897NCOA6ENSG00000198646.9C>A4.0866e-9123445Cerebellum
Chr20:33536897NCOA6ENSG00000198646.9C>A5.1457e-3123445Cortex

meQTL of rs6060124 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 )
chr203349523533496049E067-40848
chr203349611333496228E067-40669
chr203352618833526671E067-10226
chr203355694533557105E06720048
chr203355711733557334E06720220
chr203355763333557813E06720736
chr203355791433557995E06721017
chr203355827133558553E06721374
chr203355862533558685E06721728
chr203355879233558897E06721895
chr203355899633559085E06722099
chr203355914833559270E06722251
chr203355928433559569E06722387
chr203356560233566741E06728705
chr203356875133569101E06731854
chr203357428733574444E06737390
chr203357469833574827E06737801
chr203357494333575137E06738046
chr203357516333575223E06738266
chr203357522433575314E06738327
chr203357537633576539E06738479
chr203358442433584570E06747527
chr203358574833585818E06748851
chr203358584633585924E06748949
chr203358594033586168E06749043
chr203349523533496049E068-40848
chr203349611333496228E068-40669
chr203352601833526133E068-10764
chr203352618833526671E068-10226
chr203354837333548963E06811476
chr203355763333557813E06820736
chr203355791433557995E06821017
chr203355827133558553E06821374
chr203355862533558685E06821728
chr203355879233558897E06821895
chr203355899633559085E06822099
chr203355914833559270E06822251
chr203356560233566741E06828705
chr203357516333575223E06838266
chr203357522433575314E06838327
chr203357537633576539E06838479
chr203358498933585740E06848092
chr203358574833585818E06848851
chr203358584633585924E06848949
chr203358594033586168E06849043
chr203349523533496049E069-40848
chr203349611333496228E069-40669
chr203354837333548963E06911476
chr203355589333556501E06918996
chr203355659333556882E06919696
chr203355694533557105E06920048
chr203355711733557334E06920220
chr203355763333557813E06920736
chr203355791433557995E06921017
chr203355827133558553E06921374
chr203355862533558685E06921728
chr203355879233558897E06921895
chr203355899633559085E06922099
chr203355914833559270E06922251
chr203355928433559569E06922387
chr203355980333560117E06922906
chr203356493433565506E06928037
chr203356560233566741E06928705
chr203356862333568722E06931726
chr203356875133569101E06931854
chr203357356833573765E06936671
chr203357379833573914E06936901
chr203357428733574444E06937390
chr203357469833574827E06937801
chr203357494333575137E06938046
chr203357516333575223E06938266
chr203357522433575314E06938327
chr203357537633576539E06938479
chr203358574833585818E06948851
chr203358584633585924E06948949
chr203358594033586168E06949043
chr203352618833526671E070-10226
chr203354468533544774E0707788
chr203349523533496049E071-40848
chr203352618833526671E071-10226
chr203354837333548963E07111476
chr203355694533557105E07120048
chr203355711733557334E07120220
chr203355763333557813E07120736
chr203355791433557995E07121017
chr203355827133558553E07121374
chr203355862533558685E07121728
chr203355879233558897E07121895
chr203355899633559085E07122099
chr203355914833559270E07122251
chr203355928433559569E07122387
chr203355980333560117E07122906
chr203356493433565506E07128037
chr203356560233566741E07128705
chr203356862333568722E07131726
chr203356875133569101E07131854
chr203357250333572746E07135606
chr203357279833572878E07135901
chr203357288133573564E07135984
chr203357428733574444E07137390
chr203357469833574827E07137801
chr203357494333575137E07138046
chr203357516333575223E07138266
chr203357522433575314E07138327
chr203357537633576539E07138479
chr203358574833585818E07148851
chr203358584633585924E07148949
chr203358594033586168E07149043
chr203349523533496049E072-40848
chr203349611333496228E072-40669
chr203354837333548963E07211476
chr203355659333556882E07219696
chr203355694533557105E07220048
chr203355711733557334E07220220
chr203355763333557813E07220736
chr203355791433557995E07221017
chr203355827133558553E07221374
chr203355862533558685E07221728
chr203355879233558897E07221895
chr203355899633559085E07222099
chr203355914833559270E07222251
chr203355928433559569E07222387
chr203355980333560117E07222906
chr203356051233560578E07223615
chr203356100933561089E07224112
chr203356110533561199E07224208
chr203356385533564420E07226958
chr203356444633564547E07227549
chr203356493433565506E07228037
chr203356560233566741E07228705
chr203356862333568722E07231726
chr203356875133569101E07231854
chr203357250333572746E07235606
chr203357279833572878E07235901
chr203357288133573564E07235984
chr203357356833573765E07236671
chr203357379833573914E07236901
chr203357428733574444E07237390
chr203357469833574827E07237801
chr203357494333575137E07238046
chr203357516333575223E07238266
chr203357522433575314E07238327
chr203357537633576539E07238479
chr203358462633584938E07247729
chr203358574833585818E07248851
chr203358584633585924E07248949
chr203358594033586168E07249043
chr203349523533496049E073-40848
chr203349611333496228E073-40669
chr203354468533544774E0737788
chr203354481333545129E0737916
chr203355763333557813E07320736
chr203355791433557995E07321017
chr203355827133558553E07321374
chr203355862533558685E07321728
chr203355879233558897E07321895
chr203355899633559085E07322099
chr203355914833559270E07322251
chr203356560233566741E07328705
chr203357469833574827E07337801
chr203357494333575137E07338046
chr203357516333575223E07338266
chr203357522433575314E07338327
chr203357537633576539E07338479
chr203358399433584092E07347097
chr203358418533584229E07347288
chr203358433333584394E07347436
chr203358442433584570E07347527
chr203358462633584938E07347729
chr203358498933585740E07348092
chr203358574833585818E07348851
chr203358584633585924E07348949
chr203358594033586168E07349043
chr203349523533496049E074-40848
chr203349611333496228E074-40669
chr203352618833526671E074-10226
chr203354468533544774E0747788
chr203354481333545129E0747916
chr203354514833545266E0748251
chr203354837333548963E07411476
chr203355659333556882E07419696
chr203355694533557105E07420048
chr203355711733557334E07420220
chr203355763333557813E07420736
chr203355791433557995E07421017
chr203355827133558553E07421374
chr203355862533558685E07421728
chr203355879233558897E07421895
chr203355899633559085E07422099
chr203355914833559270E07422251
chr203355928433559569E07422387
chr203356493433565506E07428037
chr203356560233566741E07428705
chr203356862333568722E07431726
chr203356875133569101E07431854
chr203357124233571371E07434345
chr203357428733574444E07437390
chr203357469833574827E07437801
chr203357494333575137E07438046
chr203357516333575223E07438266
chr203357522433575314E07438327
chr203357537633576539E07438479
chr203358498933585740E08148092
chr203349523533496049E082-40848










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr203354243133544582E0675534
chr203354243133544582E0685534
chr203354243133544582E0695534
chr203354243133544582E0705534
chr203354243133544582E0715534
chr203354243133544582E0725534
chr203354243133544582E0735534
chr203354243133544582E0745534
chr203354243133544582E0815534
chr203354243133544582E0825534