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rs587777375

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs587777375(-;-)
Make rs587777375(-;CT)
ReferenceGRCh38 38.1/142
Chromosome19
Position48991439
GeneGYS1
is asnp
is mentioned by
dbSNPrs587777375
ebirs587777375
HLIrs587777375
Exacrs587777375
Varsomers587777375
Maprs587777375
PheGenIrs587777375
hapmaprs587777375
1000 genomesrs587777375
hgdprs587777375
ensemblrs587777375
gopubmedrs587777375
geneviewrs587777375
scholarrs587777375
googlers587777375
pharmgkbrs587777375
gwascentralrs587777375
openSNPrs587777375
23andMers587777375
23andMe allrs587777375
SNP Nexus

SNPshotrs587777375
SNPdbers587777375
MSV3drs587777375
GWAS Ctlgrs587777375
Max Magnitude0
ClinVar
Risk rs587777375(;)
Alt rs587777375(;)
Reference rs587777375(CT;CT)
Significance Pathogenic
Disease Glycogen storage disease 0
Variation info
Gene GYS1
CLNDBN Glycogen storage disease 0, muscle
Reversed 0
HGVS NC_000019.9:g.49494696_49494697delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000116203.2,