Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918591

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918591(C;T)
Make rs121918591(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position88729279
GeneRPIA
is asnp
is mentioned by
dbSNPrs121918591
ebirs121918591
HLIrs121918591
Exacrs121918591
Varsomers121918591
Maprs121918591
PheGenIrs121918591
hapmaprs121918591
1000 genomesrs121918591
hgdprs121918591
ensemblrs121918591
gopubmedrs121918591
geneviewrs121918591
scholarrs121918591
googlers121918591
pharmgkbrs121918591
gwascentralrs121918591
openSNPrs121918591
23andMers121918591
23andMe allrs121918591
SNP Nexus

SNPshotrs121918591
SNPdbers121918591
MSV3drs121918591
GWAS Ctlgrs121918591
Max Magnitude0
OMIM180430
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918591(T;T)
Alt rs121918591(T;T)
Reference rs121918591(C;C)
Significance Pathogenic
Disease Deficiency of ribose-5-phosphate isomerase
Variation info
Gene RPIA
CLNDBN Deficiency of ribose-5-phosphate isomerase
Reversed 0
HGVS NC_000002.11:g.89028797C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013882.26,