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

rs121912826

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912826(A;A)
Make rs121912826(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position227290062
GeneCOL4A3
is asnp
is mentioned by
dbSNPrs121912826
ebirs121912826
HLIrs121912826
Exacrs121912826
Varsomers121912826
Maprs121912826
PheGenIrs121912826
hapmaprs121912826
1000 genomesrs121912826
hgdprs121912826
ensemblrs121912826
gopubmedrs121912826
geneviewrs121912826
scholarrs121912826
googlers121912826
pharmgkbrs121912826
gwascentralrs121912826
openSNPrs121912826
23andMers121912826
23andMe allrs121912826
SNP Nexus

SNPshotrs121912826
SNPdbers121912826
MSV3drs121912826
GWAS Ctlgrs121912826
Max Magnitude0
OMIM120070
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121912826(A;A)
Alt rs121912826(A;A)
Reference rs121912826(G;G)
Significance Pathogenic
Disease Benign familial hematuria
Variation info
Gene COL4A3 LOC654841
CLNDBN Benign familial hematuria
Reversed 0
HGVS NC_000002.11:g.228154778G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019041.28,


[PMID 11961012] Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.