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rs367543269

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs367543269(-;-)
Make rs367543269(-;CC)
Make rs367543269(CC;CC)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647853
GeneGALT
is asnp
is mentioned by
dbSNPrs367543269
ebirs367543269
HLIrs367543269
Exacrs367543269
Varsomers367543269
Maprs367543269
PheGenIrs367543269
hapmaprs367543269
1000 genomesrs367543269
hgdprs367543269
ensemblrs367543269
gopubmedrs367543269
geneviewrs367543269
scholarrs367543269
googlers367543269
pharmgkbrs367543269
gwascentralrs367543269
openSNPrs367543269
23andMers367543269
23andMe allrs367543269
SNP Nexus

SNPshotrs367543269
SNPdbers367543269
MSV3drs367543269
GWAS Ctlgrs367543269
Max Magnitude0
ClinVar
Risk rs367543269(CC;CC)
Alt rs367543269(CC;CC)
Reference rs367543269(;)
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.34647849_34647850dupCC
CLNSRC ARUP GALT
CLNACC RCV000032011.1,