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rs121912861

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912861(C;T)
Make rs121912861(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position227022135
GeneCOL4A4
is asnp
is mentioned by
dbSNPrs121912861
ebirs121912861
HLIrs121912861
Exacrs121912861
Varsomers121912861
Maprs121912861
PheGenIrs121912861
hapmaprs121912861
1000 genomesrs121912861
hgdprs121912861
ensemblrs121912861
gopubmedrs121912861
geneviewrs121912861
scholarrs121912861
googlers121912861
pharmgkbrs121912861
gwascentralrs121912861
openSNPrs121912861
23andMers121912861
23andMe allrs121912861
SNP Nexus

SNPshotrs121912861
SNPdbers121912861
MSV3drs121912861
GWAS Ctlgrs121912861
Max Magnitude0
OMIM120131
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912861(T;T)
Alt rs121912861(T;T)
Reference rs121912861(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A4
CLNDBN Alport syndrome, autosomal recessive
Reversed 1
HGVS NC_000002.11:g.227886851G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018950.27,