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rs757700700

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs757700700(C;T)
Make rs757700700(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position80105872
GeneGAA
is asnp
is mentioned by
dbSNPrs757700700
ebirs757700700
HLIrs757700700
Exacrs757700700
Varsomers757700700
Maprs757700700
PheGenIrs757700700
hapmaprs757700700
1000 genomesrs757700700
hgdprs757700700
ensemblrs757700700
gopubmedrs757700700
geneviewrs757700700
scholarrs757700700
googlers757700700
pharmgkbrs757700700
gwascentralrs757700700
openSNPrs757700700
23andMers757700700
23andMe allrs757700700
SNP Nexus

SNPshotrs757700700
SNPdbers757700700
MSV3drs757700700
GWAS Ctlgrs757700700
Max Magnitude0
ClinVar
Risk rs757700700(T;T)
Alt rs757700700(T;T)
Reference rs757700700(C;C)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78079671C>T
CLNSRC
CLNACC RCV000169620.1,