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rs730880316

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880316(-;-)
Make rs730880316(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position88738000
GeneRPIA
is asnp
is mentioned by
dbSNPrs730880316
ebirs730880316
HLIrs730880316
Exacrs730880316
Varsomers730880316
Maprs730880316
PheGenIrs730880316
hapmaprs730880316
1000 genomesrs730880316
hgdprs730880316
ensemblrs730880316
gopubmedrs730880316
geneviewrs730880316
scholarrs730880316
googlers730880316
pharmgkbrs730880316
gwascentralrs730880316
openSNPrs730880316
23andMers730880316
23andMe allrs730880316
SNP Nexus

SNPshotrs730880316
SNPdbers730880316
MSV3drs730880316
GWAS Ctlgrs730880316
Max Magnitude0
ClinVar
Risk rs730880316(;)
Alt rs730880316(;)
Reference rs730880316(G;G)
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.89037517delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000013881.28,