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rs794726970

From SNPedia

Orientationplus
Make rs794726970(-;-)
Make rs794726970(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position34649557
GeneGALT
is asnp
is mentioned by
dbSNPrs794726970
ebirs794726970
HLIrs794726970
Exacrs794726970
Varsomers794726970
Maprs794726970
PheGenIrs794726970
hapmaprs794726970
1000 genomesrs794726970
hgdprs794726970
ensemblrs794726970
gopubmedrs794726970
geneviewrs794726970
scholarrs794726970
googlers794726970
pharmgkbrs794726970
gwascentralrs794726970
openSNPrs794726970
23andMers794726970
23andMe allrs794726970
SNP Nexus

SNPshotrs794726970
SNPdbers794726970
MSV3drs794726970
GWAS Ctlgrs794726970
Max Magnitude
ClinVar
Risk rs794726970(;)
Alt rs794726970(;)
Reference rs794726970(C;C)
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.34649554delC
CLNSRC
CLNACC RCV000173648.2,