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rs786200978

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786200978(-;-)
Make rs786200978(-;G)
Make rs786200978(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position34647899
GeneGALT
is asnp
is mentioned by
dbSNPrs786200978
ebirs786200978
HLIrs786200978
Exacrs786200978
Varsomers786200978
Maprs786200978
PheGenIrs786200978
hapmaprs786200978
1000 genomesrs786200978
hgdprs786200978
ensemblrs786200978
gopubmedrs786200978
geneviewrs786200978
scholarrs786200978
googlers786200978
pharmgkbrs786200978
gwascentralrs786200978
openSNPrs786200978
23andMers786200978
23andMe allrs786200978
SNP Nexus

SNPshotrs786200978
SNPdbers786200978
MSV3drs786200978
GWAS Ctlgrs786200978
Max Magnitude0
ClinVar
Risk rs786200978(G;G)
Alt rs786200978(G;G)
Reference rs786200978(;)
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.34647896dupG
CLNSRC
CLNACC RCV000153305.3,