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rs367543258

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs367543258(G;T)
Make rs367543258(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647956
GeneGALT
is asnp
is mentioned by
dbSNPrs367543258
dbSNP (classic)rs367543258
ClinGenrs367543258
ebirs367543258
HLIrs367543258
Exacrs367543258
Gnomadrs367543258
Varsomers367543258
LitVarrs367543258
Maprs367543258
PheGenIrs367543258
Biobankrs367543258
1000 genomesrs367543258
hgdprs367543258
ensemblrs367543258
geneviewrs367543258
scholarrs367543258
googlers367543258
pharmgkbrs367543258
gwascentralrs367543258
openSNPrs367543258
23andMers367543258
SNPshotrs367543258
SNPdbers367543258
MSV3drs367543258
GWAS Ctlgrs367543258
Max Magnitude0
ClinVar
Risk rs367543258(A;A) rs367543258(T;T)
Alt rs367543258(A;A) rs367543258(T;T)
Reference Rs367543258(G;G)
Significance Other
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.34647953G>A; NC_000009.11:g.34647953G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000409875.1, RCV000022125.3,