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rs749047676

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs749047676(C;C)
Make rs749047676(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position34650448
GeneGALT, IL11RA
is asnp
is mentioned by
dbSNPrs749047676
ebirs749047676
HLIrs749047676
Exacrs749047676
Varsomers749047676
Maprs749047676
PheGenIrs749047676
hapmaprs749047676
1000 genomesrs749047676
hgdprs749047676
ensemblrs749047676
gopubmedrs749047676
geneviewrs749047676
scholarrs749047676
googlers749047676
pharmgkbrs749047676
gwascentralrs749047676
openSNPrs749047676
23andMers749047676
23andMe allrs749047676
SNP Nexus

SNPshotrs749047676
SNPdbers749047676
MSV3drs749047676
GWAS Ctlgrs749047676
Max Magnitude0
ClinVar
Risk rs749047676(A,C;A,C)
Alt rs749047676(A,C;A,C)
Reference rs749047676(G;G)
Significance Probable-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.34650445G>C
CLNSRC
CLNACC RCV000173981.1,