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rs11300320

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs11300320(-;-)
Make rs11300320(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position87950752
GeneGALC
is asnp
is mentioned by
dbSNPrs11300320
dbSNP (old)rs11300320
ClinGenrs11300320
ebirs11300320
HLIrs11300320
Exacrs11300320
Gnomadrs11300320
Varsomers11300320
Maprs11300320
PheGenIrs11300320
Biobankrs11300320
1000 genomesrs11300320
hgdprs11300320
ensemblrs11300320
gopubmedrs11300320
geneviewrs11300320
scholarrs11300320
googlers11300320
pharmgkbrs11300320
gwascentralrs11300320
openSNPrs11300320
23andMers11300320
23andMe allrs11300320
SNPshotrs11300320
SNPdbers11300320
MSV3drs11300320
GWAS Ctlgrs11300320
Max Magnitude0
ClinVar
Risk rs11300320(-;-)
Alt rs11300320(-;-)
Reference Rs11300320(A;A)
Significance Probable-Pathogenic
Disease not specified Galactosylceramide beta-galactosidase deficiency Abnormality of brain morphology
Variation info
Gene GALC
CLNDBN not specified Galactosylceramide beta-galactosidase deficiency Abnormality of brain morphology
Reversed 0
HGVS NC_000014.8:g.88417096delA
CLNSRC
CLNACC RCV000078190.4, RCV000292380.1, RCV000454160.1,