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rs1057518390

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057518390(-;A)
Make rs1057518390(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position87947817
GeneGALC
is asnp
is mentioned by
dbSNPrs1057518390
dbSNP (classic)rs1057518390
ClinGenrs1057518390
ebirs1057518390
HLIrs1057518390
Exacrs1057518390
Gnomadrs1057518390
Varsomers1057518390
LitVarrs1057518390
Maprs1057518390
PheGenIrs1057518390
Biobankrs1057518390
1000 genomesrs1057518390
hgdprs1057518390
ensemblrs1057518390
geneviewrs1057518390
scholarrs1057518390
googlers1057518390
pharmgkbrs1057518390
gwascentralrs1057518390
openSNPrs1057518390
23andMers1057518390
23andMe allrs1057518390
SNPshotrs1057518390
SNPdbers1057518390
MSV3drs1057518390
GWAS Ctlgrs1057518390
Max Magnitude0
ClinVar
Risk rs1057518390(A;A)
Alt rs1057518390(A;A)
Reference Rs1057518390(-;-)
Significance Pathogenic
Disease not provided
Variation info
Gene GALC
CLNDBN not provided
Reversed 1
HGVS NC_000014.8:g.88414162dupT
CLNSRC
CLNACC RCV000413526.1,