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rs121912858

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912858(A;A)
Make rs121912858(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position227032253
GeneCOL4A4
is asnp
is mentioned by
dbSNPrs121912858
ebirs121912858
HLIrs121912858
Exacrs121912858
Varsomers121912858
Maprs121912858
PheGenIrs121912858
hapmaprs121912858
1000 genomesrs121912858
hgdprs121912858
ensemblrs121912858
gopubmedrs121912858
geneviewrs121912858
scholarrs121912858
googlers121912858
pharmgkbrs121912858
gwascentralrs121912858
openSNPrs121912858
23andMers121912858
23andMe allrs121912858
SNP Nexus

SNPshotrs121912858
SNPdbers121912858
MSV3drs121912858
GWAS Ctlgrs121912858
Max Magnitude0
OMIM120131
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912858(A;A)
Alt rs121912858(A;A)
Reference rs121912858(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A4
CLNDBN Alport syndrome, autosomal recessive
Reversed 1
HGVS NC_000002.11:g.227896969C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018947.28,