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rs375867319

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs375867319(A;G)
Make rs375867319(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome14
Position87945682
GeneGALC
is asnp
is mentioned by
dbSNPrs375867319
dbSNP (old)rs375867319
ClinGenrs375867319
ebirs375867319
HLIrs375867319
Exacrs375867319
Gnomadrs375867319
Varsomers375867319
Maprs375867319
PheGenIrs375867319
Biobankrs375867319
1000 genomesrs375867319
hgdprs375867319
ensemblrs375867319
gopubmedrs375867319
geneviewrs375867319
scholarrs375867319
googlers375867319
pharmgkbrs375867319
gwascentralrs375867319
openSNPrs375867319
23andMers375867319
23andMe allrs375867319
SNP Nexus

SNPshotrs375867319
SNPdbers375867319
MSV3drs375867319
GWAS Ctlgrs375867319
Max Magnitude0
ClinVar
Risk rs375867319(G;G)
Alt rs375867319(G;G)
Reference Rs375867319(A;A)
Significance Probable-Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 0
HGVS NC_000014.8:g.88412026A>G
CLNSRC
CLNACC RCV000324608.1,