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rs121912863

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912863(C;T)
Make rs121912863(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position227008112
GeneCOL4A4
is asnp
is mentioned by
dbSNPrs121912863
ebirs121912863
HLIrs121912863
Exacrs121912863
Varsomers121912863
Maprs121912863
PheGenIrs121912863
hapmaprs121912863
1000 genomesrs121912863
hgdprs121912863
ensemblrs121912863
gopubmedrs121912863
geneviewrs121912863
scholarrs121912863
googlers121912863
pharmgkbrs121912863
gwascentralrs121912863
openSNPrs121912863
23andMers121912863
23andMe allrs121912863
SNP Nexus

SNPshotrs121912863
SNPdbers121912863
MSV3drs121912863
GWAS Ctlgrs121912863
Max Magnitude0
OMIM120131
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121912863(T;T)
Alt rs121912863(T;T)
Reference rs121912863(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A4
CLNDBN Alport syndrome, autosomal recessive
Reversed 1
HGVS NC_000002.11:g.227872828G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018952.27,