Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057516469

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516469(-;-)
Make rs1057516469(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position87965526
GeneGALC
is asnp
is mentioned by
dbSNPrs1057516469
dbSNP (classic)rs1057516469
ClinGenrs1057516469
ebirs1057516469
HLIrs1057516469
Exacrs1057516469
Gnomadrs1057516469
Varsomers1057516469
LitVarrs1057516469
Maprs1057516469
PheGenIrs1057516469
Biobankrs1057516469
1000 genomesrs1057516469
hgdprs1057516469
ensemblrs1057516469
geneviewrs1057516469
scholarrs1057516469
googlers1057516469
pharmgkbrs1057516469
gwascentralrs1057516469
openSNPrs1057516469
23andMers1057516469
23andMe allrs1057516469
SNPshotrs1057516469
SNPdbers1057516469
MSV3drs1057516469
GWAS Ctlgrs1057516469
Max Magnitude0
ClinVar
Risk rs1057516469(-;-)
Alt rs1057516469(-;-)
Reference Rs1057516469(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.88431870delC
CLNSRC
CLNACC RCV000410105.1,