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rs11623

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs11623(G;T)
Make rs11623(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position87992996
GeneGALC
is asnp
is mentioned by
dbSNPrs11623
ebirs11623
HLIrs11623
Exacrs11623
Varsomers11623
Maprs11623
PheGenIrs11623
hapmaprs11623
1000 genomesrs11623
hgdprs11623
ensemblrs11623
gopubmedrs11623
geneviewrs11623
scholarrs11623
googlers11623
pharmgkbrs11623
gwascentralrs11623
openSNPrs11623
23andMers11623
23andMe allrs11623
SNP Nexus

SNPshotrs11623
SNPdbers11623
MSV3drs11623
GWAS Ctlgrs11623
Max Magnitude0
ClinVar
Risk rs11623(C;C)
Alt rs11623(C;C)
Reference rs11623(G;G)
Significance Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 1
HGVS NC_000014.8:g.88459340C>T
CLNSRC
CLNACC RCV000173074.1,