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rs121912827

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912827(G;T)
Make rs121912827(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position227289222
GeneCOL4A3
is asnp
is mentioned by
dbSNPrs121912827
ebirs121912827
HLIrs121912827
Exacrs121912827
Varsomers121912827
Maprs121912827
PheGenIrs121912827
hapmaprs121912827
1000 genomesrs121912827
hgdprs121912827
ensemblrs121912827
gopubmedrs121912827
geneviewrs121912827
scholarrs121912827
googlers121912827
pharmgkbrs121912827
gwascentralrs121912827
openSNPrs121912827
23andMers121912827
23andMe allrs121912827
SNP Nexus

SNPshotrs121912827
SNPdbers121912827
MSV3drs121912827
GWAS Ctlgrs121912827
Max Magnitude0
OMIM120070
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121912827(T;T)
Alt rs121912827(T;T)
Reference rs121912827(G;G)
Significance Pathogenic
Disease Benign familial hematuria
Variation info
Gene COL4A3 LOC654841
CLNDBN Benign familial hematuria
Reversed 0
HGVS NC_000002.11:g.228153938G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019042.28,


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