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rs1057516367

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516367(C;T)
Make rs1057516367(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position42900955
GeneG6PC
is asnp
is mentioned by
dbSNPrs1057516367
dbSNP (old)rs1057516367
ClinGenrs1057516367
ebirs1057516367
HLIrs1057516367
Exacrs1057516367
Gnomadrs1057516367
Varsomers1057516367
Maprs1057516367
PheGenIrs1057516367
Biobankrs1057516367
1000 genomesrs1057516367
hgdprs1057516367
ensemblrs1057516367
gopubmedrs1057516367
geneviewrs1057516367
scholarrs1057516367
googlers1057516367
pharmgkbrs1057516367
gwascentralrs1057516367
openSNPrs1057516367
23andMers1057516367
23andMe allrs1057516367
SNPshotrs1057516367
SNPdbers1057516367
MSV3drs1057516367
GWAS Ctlgrs1057516367
Max Magnitude0
ClinVar
Risk rs1057516367(T;T)
Alt rs1057516367(T;T)
Reference Rs1057516367(C;C)
Significance Probable-Pathogenic
Disease Glycogen storage disease type 1A
Variation info
Gene G6PC
CLNDBN Glycogen storage disease type 1A
Reversed 0
HGVS NC_000017.10:g.41052972C>T
CLNSRC
CLNACC RCV000410536.1,