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rs421262

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(T;T) 0 common in clinvar
Make rs421262(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position87934869
GeneGALC
is asnp
is mentioned by
dbSNPrs421262
dbSNP (old)rs421262
ClinGenrs421262
ebirs421262
HLIrs421262
Exacrs421262
Gnomadrs421262
Varsomers421262
Maprs421262
PheGenIrs421262
Biobankrs421262
1000 genomesrs421262
hgdprs421262
ensemblrs421262
gopubmedrs421262
geneviewrs421262
scholarrs421262
googlers421262
pharmgkbrs421262
gwascentralrs421262
openSNPrs421262
23andMers421262
23andMe allrs421262
SNPshotrs421262
SNPdbers421262
MSV3drs421262
GWAS Ctlgrs421262
GMAF0.06107
Max Magnitude0
? (C;C) (C;T) (T;T) 28




ClinVar
Risk rs421262(A;A) Rs421262(C;C)
Alt rs421262(A;A) Rs421262(C;C)
Reference Rs421262(T;T)
Significance Non-pathogenic
Disease not specified Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN not specified Galactosylceramide beta-galactosidase deficiency
Reversed 0
HGVS NC_000014.8:g.88401213T>C
CLNSRC ClinVar Emory University
CLNACC RCV000078197.6, RCV000290698.1,