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rs606231369

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs606231369(-;-)
Make rs606231369(-;C)
Make rs606231369(C;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position108571814
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs606231369
ebirs606231369
HLIrs606231369
Exacrs606231369
Varsomers606231369
Maprs606231369
PheGenIrs606231369
hapmaprs606231369
1000 genomesrs606231369
hgdprs606231369
ensemblrs606231369
gopubmedrs606231369
geneviewrs606231369
scholarrs606231369
googlers606231369
pharmgkbrs606231369
gwascentralrs606231369
openSNPrs606231369
23andMers606231369
23andMe allrs606231369
SNP Nexus

SNPshotrs606231369
SNPdbers606231369
MSV3drs606231369
GWAS Ctlgrs606231369
Max Magnitude0
ClinVar
Risk rs606231369(C;C)
Alt rs606231369(C;C)
Reference rs606231369(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107815044dupC
CLNSRC
CLNACC RCV000021151.1,