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rs119490108

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119490108(C;T)
Make rs119490108(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position37426545
GeneGRHPR
is asnp
is mentioned by
dbSNPrs119490108
dbSNP (classic)rs119490108
ClinGenrs119490108
ebirs119490108
HLIrs119490108
Exacrs119490108
Gnomadrs119490108
Varsomers119490108
LitVarrs119490108
Maprs119490108
PheGenIrs119490108
Biobankrs119490108
1000 genomesrs119490108
hgdprs119490108
ensemblrs119490108
geneviewrs119490108
scholarrs119490108
googlers119490108
pharmgkbrs119490108
gwascentralrs119490108
openSNPrs119490108
23andMers119490108
SNPshotrs119490108
SNPdbers119490108
MSV3drs119490108
GWAS Ctlgrs119490108
Max Magnitude0
OMIM604296
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119490108(T;T)
Alt rs119490108(T;T)
Reference Rs119490108(C;C)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene GRHPR
CLNDBN Primary hyperoxaluria, type II
Reversed 0
HGVS NC_000009.11:g.37426542C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005991.4,