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rs367543268

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs367543268(A;A)
Make rs367543268(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34650368
GeneGALT, IL11RA
is asnp
is mentioned by
dbSNPrs367543268
dbSNP (classic)rs367543268
ClinGenrs367543268
ebirs367543268
HLIrs367543268
Exacrs367543268
Gnomadrs367543268
Varsomers367543268
LitVarrs367543268
Maprs367543268
PheGenIrs367543268
Biobankrs367543268
1000 genomesrs367543268
hgdprs367543268
ensemblrs367543268
geneviewrs367543268
scholarrs367543268
googlers367543268
pharmgkbrs367543268
gwascentralrs367543268
openSNPrs367543268
23andMers367543268
SNPshotrs367543268
SNPdbers367543268
MSV3drs367543268
GWAS Ctlgrs367543268
Max Magnitude0
ClinVar
Risk rs367543268(A;A)
Alt rs367543268(A;A)
Reference Rs367543268(G;G)
Significance Pathogenic
Disease Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Variation info
Gene GALT IL11RA
CLNDBN Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Reversed 0
HGVS NC_000009.11:g.34650365G>A
CLNSRC ARUP GALT
CLNACC RCV000022275.2,