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rs1057516270

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516270(A;A)
Make rs1057516270(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position87963480
GeneGALC
is asnp
is mentioned by
dbSNPrs1057516270
dbSNP (old)rs1057516270
ClinGenrs1057516270
ebirs1057516270
HLIrs1057516270
Exacrs1057516270
Gnomadrs1057516270
Varsomers1057516270
Maprs1057516270
PheGenIrs1057516270
Biobankrs1057516270
1000 genomesrs1057516270
hgdprs1057516270
ensemblrs1057516270
gopubmedrs1057516270
geneviewrs1057516270
scholarrs1057516270
googlers1057516270
pharmgkbrs1057516270
gwascentralrs1057516270
openSNPrs1057516270
23andMers1057516270
23andMe allrs1057516270
SNPshotrs1057516270
SNPdbers1057516270
MSV3drs1057516270
GWAS Ctlgrs1057516270
Max Magnitude0
ClinVar
Risk rs1057516270(A;A)
Alt rs1057516270(A;A)
Reference Rs1057516270(G;G)
Significance Probable-Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 1
HGVS NC_000014.8:g.88429824C>T
CLNSRC
CLNACC RCV000411899.1,