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rs398123185

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123185(A;C)
Make rs398123185(C;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648760
GeneGALT
is asnp
is mentioned by
dbSNPrs398123185
ebirs398123185
HLIrs398123185
Exacrs398123185
Varsomers398123185
Maprs398123185
PheGenIrs398123185
hapmaprs398123185
1000 genomesrs398123185
hgdprs398123185
ensemblrs398123185
gopubmedrs398123185
geneviewrs398123185
scholarrs398123185
googlers398123185
pharmgkbrs398123185
gwascentralrs398123185
openSNPrs398123185
23andMers398123185
23andMe allrs398123185
SNP Nexus

SNPshotrs398123185
SNPdbers398123185
MSV3drs398123185
GWAS Ctlgrs398123185
Max Magnitude0
ClinVar
Risk rs398123185(C;C)
Alt rs398123185(C;C)
Reference rs398123185(A;A)
Significance Pathogenic
Disease Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Variation info
Gene GALT
CLNDBN Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Reversed 0
HGVS NC_000009.11:g.34648757A>C
CLNSRC ClinVar
CLNACC RCV000078234.4,