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rs121912859

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912859(A;A)
Make rs121912859(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position227032049
GeneCOL4A4
is asnp
is mentioned by
dbSNPrs121912859
ClinGenrs121912859
ebirs121912859
HLIrs121912859
Exacrs121912859
Varsomers121912859
Maprs121912859
PheGenIrs121912859
hapmaprs121912859
1000 genomesrs121912859
hgdprs121912859
ensemblrs121912859
gopubmedrs121912859
geneviewrs121912859
scholarrs121912859
googlers121912859
pharmgkbrs121912859
gwascentralrs121912859
openSNPrs121912859
23andMers121912859
23andMe allrs121912859
SNP Nexus

SNPshotrs121912859
SNPdbers121912859
MSV3drs121912859
GWAS Ctlgrs121912859
Max Magnitude0
OMIM120131
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912859(A;A)
Alt rs121912859(A;A)
Reference Rs121912859(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A4
CLNDBN Alport syndrome, autosomal recessive
Reversed 1
HGVS NC_000002.11:g.227896765G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018948.28,