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rs606231375

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs606231375(-;-)
Make rs606231375(-;A)
Make rs606231375(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position34647662
GeneGALT
is asnp
is mentioned by
dbSNPrs606231375
ebirs606231375
HLIrs606231375
Exacrs606231375
Varsomers606231375
Maprs606231375
PheGenIrs606231375
hapmaprs606231375
1000 genomesrs606231375
hgdprs606231375
ensemblrs606231375
gopubmedrs606231375
geneviewrs606231375
scholarrs606231375
googlers606231375
pharmgkbrs606231375
gwascentralrs606231375
openSNPrs606231375
23andMers606231375
23andMe allrs606231375
SNP Nexus

SNPshotrs606231375
SNPdbers606231375
MSV3drs606231375
GWAS Ctlgrs606231375
Max Magnitude0
ClinVar
Risk rs606231375(A;A)
Alt rs606231375(A;A)
Reference rs606231375(;)
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.34647659dupA
CLNSRC
CLNACC RCV000022087.1,