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rs200960659

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200960659(A;A)
Make rs200960659(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position87945637
GeneGALC
is asnp
is mentioned by
dbSNPrs200960659
dbSNP (classic)rs200960659
ClinGenrs200960659
ebirs200960659
HLIrs200960659
Exacrs200960659
Gnomadrs200960659
Varsomers200960659
LitVarrs200960659
Maprs200960659
PheGenIrs200960659
Biobankrs200960659
1000 genomesrs200960659
hgdprs200960659
ensemblrs200960659
geneviewrs200960659
scholarrs200960659
googlers200960659
pharmgkbrs200960659
gwascentralrs200960659
openSNPrs200960659
23andMers200960659
SNPshotrs200960659
SNPdbers200960659
MSV3drs200960659
GWAS Ctlgrs200960659
Max Magnitude0
ClinVar
Risk rs200960659(A;A)
Alt rs200960659(A;A)
Reference Rs200960659(G;G)
Significance Probable-Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 0
HGVS NC_000014.8:g.88411981G>A
CLNSRC
CLNACC RCV000410159.1,