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rs398123183

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAGGTATGGGCCAG;CAGGTATGGGCCAG) 0 common in clinvar
(GTATGGGCCAGCAG;GTATGGGCCAGCAG) 0 common in clinvar
Make rs398123183(-;-)
Make rs398123183(-;GTATGGGCCAGCAG)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648334
GeneGALT
is asnp
is mentioned by
dbSNPrs398123183
ebirs398123183
HLIrs398123183
Exacrs398123183
Varsomers398123183
Maprs398123183
PheGenIrs398123183
hapmaprs398123183
1000 genomesrs398123183
hgdprs398123183
ensemblrs398123183
gopubmedrs398123183
geneviewrs398123183
scholarrs398123183
googlers398123183
pharmgkbrs398123183
gwascentralrs398123183
openSNPrs398123183
23andMers398123183
23andMe allrs398123183
SNP Nexus

SNPshotrs398123183
SNPdbers398123183
MSV3drs398123183
GWAS Ctlgrs398123183
Max Magnitude0
ClinVar
Risk rs398123183(;)
Alt rs398123183(;)
Reference rs398123183(CAGGTATGGGCCAG;CAGGTATGGGCCAG)
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.34648331_34648344delGTATGGGCCAGCAG
CLNSRC ClinVar
CLNACC RCV000078228.4,