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

rs121912825

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912825(C;G)
Make rs121912825(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position227309007
GeneCOL4A3
is asnp
is mentioned by
dbSNPrs121912825
ebirs121912825
HLIrs121912825
Exacrs121912825
Varsomers121912825
Maprs121912825
PheGenIrs121912825
hapmaprs121912825
1000 genomesrs121912825
hgdprs121912825
ensemblrs121912825
gopubmedrs121912825
geneviewrs121912825
scholarrs121912825
googlers121912825
pharmgkbrs121912825
gwascentralrs121912825
openSNPrs121912825
23andMers121912825
23andMe allrs121912825
SNP Nexus

SNPshotrs121912825
SNPdbers121912825
MSV3drs121912825
GWAS Ctlgrs121912825
Max Magnitude0
OMIM120070
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912825(G;G)
Alt rs121912825(G;G)
Reference Rs121912825(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A3 LOC654841
CLNDBN Alport syndrome, autosomal recessive
Reversed 0
HGVS NC_000002.11:g.228173723C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019037.26,


[PMID 7987301] Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.