Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057517033

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517033(G;T)
Make rs1057517033(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position87939979
GeneGALC
is asnp
is mentioned by
dbSNPrs1057517033
dbSNP (old)rs1057517033
ClinGenrs1057517033
ebirs1057517033
HLIrs1057517033
Exacrs1057517033
Gnomadrs1057517033
Varsomers1057517033
Maprs1057517033
PheGenIrs1057517033
Biobankrs1057517033
1000 genomesrs1057517033
hgdprs1057517033
ensemblrs1057517033
gopubmedrs1057517033
geneviewrs1057517033
scholarrs1057517033
googlers1057517033
pharmgkbrs1057517033
gwascentralrs1057517033
openSNPrs1057517033
23andMers1057517033
23andMe allrs1057517033
SNPshotrs1057517033
SNPdbers1057517033
MSV3drs1057517033
GWAS Ctlgrs1057517033
Max Magnitude0
ClinVar
Risk rs1057517033(T;T)
Alt rs1057517033(T;T)
Reference Rs1057517033(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.88406323C>A
CLNSRC
CLNACC RCV000410434.1,