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rs757111744

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs757111744(C;T)
Make rs757111744(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position80113001
GeneGAA
is asnp
is mentioned by
dbSNPrs757111744
ebirs757111744
HLIrs757111744
Exacrs757111744
Varsomers757111744
Maprs757111744
PheGenIrs757111744
hapmaprs757111744
1000 genomesrs757111744
hgdprs757111744
ensemblrs757111744
gopubmedrs757111744
geneviewrs757111744
scholarrs757111744
googlers757111744
pharmgkbrs757111744
gwascentralrs757111744
openSNPrs757111744
23andMers757111744
23andMe allrs757111744
SNP Nexus

SNPshotrs757111744
SNPdbers757111744
MSV3drs757111744
GWAS Ctlgrs757111744
Max Magnitude0
ClinVar
Risk rs757111744(T;T)
Alt rs757111744(T;T)
Reference rs757111744(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.78086800C>T
CLNSRC
CLNACC RCV000169099.1,