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rs121912862

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912862(A;A)
Make rs121912862(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position227007475
GeneCOL4A4
is asnp
is mentioned by
dbSNPrs121912862
ebirs121912862
HLIrs121912862
Exacrs121912862
Varsomers121912862
Maprs121912862
PheGenIrs121912862
hapmaprs121912862
1000 genomesrs121912862
hgdprs121912862
ensemblrs121912862
gopubmedrs121912862
geneviewrs121912862
scholarrs121912862
googlers121912862
pharmgkbrs121912862
gwascentralrs121912862
openSNPrs121912862
23andMers121912862
23andMe allrs121912862
SNP Nexus

SNPshotrs121912862
SNPdbers121912862
MSV3drs121912862
GWAS Ctlgrs121912862
Max Magnitude0
OMIM120131
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912862(A;A)
Alt rs121912862(A;A)
Reference rs121912862(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A4
CLNDBN Alport syndrome, autosomal recessive
Reversed 1
HGVS NC_000002.11:g.227872191G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018951.27,