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rs144993986

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a galactosemia mutation
Make rs144993986(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position34649487
GeneGALT
is asnp
is mentioned by
dbSNPrs144993986
dbSNP (old)rs144993986
ClinGenrs144993986
ebirs144993986
HLIrs144993986
Exacrs144993986
Gnomadrs144993986
Varsomers144993986
Maprs144993986
PheGenIrs144993986
Biobankrs144993986
1000 genomesrs144993986
hgdprs144993986
ensemblrs144993986
gopubmedrs144993986
geneviewrs144993986
scholarrs144993986
googlers144993986
pharmgkbrs144993986
gwascentralrs144993986
openSNPrs144993986
23andMers144993986
23andMe allrs144993986
SNPshotrs144993986
SNPdbers144993986
MSV3drs144993986
GWAS Ctlgrs144993986
Max Magnitude3

aka c.982C>T, p.Arg328Cys, and R328C

ClinVar
Risk rs144993986(T;T)
Alt rs144993986(T;T)
Reference Rs144993986(C;C)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene GALT
CLNDBN not provided
Reversed 0
HGVS NC_000009.11:g.34649484C>T
CLNSRC
CLNACC RCV000431337.1,