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rs771111145

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs771111145(A;A)
Make rs771111145(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position87988514
GeneGALC
is asnp
is mentioned by
dbSNPrs771111145
ebirs771111145
HLIrs771111145
Exacrs771111145
Varsomers771111145
Maprs771111145
PheGenIrs771111145
hapmaprs771111145
1000 genomesrs771111145
hgdprs771111145
ensemblrs771111145
gopubmedrs771111145
geneviewrs771111145
scholarrs771111145
googlers771111145
pharmgkbrs771111145
gwascentralrs771111145
openSNPrs771111145
23andMers771111145
23andMe allrs771111145
SNP Nexus

SNPshotrs771111145
SNPdbers771111145
MSV3drs771111145
GWAS Ctlgrs771111145
Max Magnitude0
ClinVar
Risk rs771111145(A;A)
Alt rs771111145(A;A)
Reference rs771111145(G;G)
Significance Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 0
HGVS NC_000014.8:g.88454858G>A
CLNSRC
CLNACC RCV000175531.1,