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rs121912824

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912824(C;T)
Make rs121912824(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position227307898
GeneCOL4A3
is asnp
is mentioned by
dbSNPrs121912824
ebirs121912824
HLIrs121912824
Exacrs121912824
Varsomers121912824
Maprs121912824
PheGenIrs121912824
hapmaprs121912824
1000 genomesrs121912824
hgdprs121912824
ensemblrs121912824
gopubmedrs121912824
geneviewrs121912824
scholarrs121912824
googlers121912824
pharmgkbrs121912824
gwascentralrs121912824
openSNPrs121912824
23andMers121912824
23andMe allrs121912824
SNP Nexus

SNPshotrs121912824
SNPdbers121912824
MSV3drs121912824
GWAS Ctlgrs121912824
Max Magnitude0
OMIM120070
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912824(T;T)
Alt rs121912824(T;T)
Reference rs121912824(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A3 LOC654841
CLNDBN Alport syndrome, autosomal recessive
Reversed 0
HGVS NC_000002.11:g.228172614C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019036.30,


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


[PMID 7987396] Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome.