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rs397515493

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515493(-;-)
Make rs397515493(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108694804
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs397515493
ebirs397515493
HLIrs397515493
Exacrs397515493
Varsomers397515493
Maprs397515493
PheGenIrs397515493
hapmaprs397515493
1000 genomesrs397515493
hgdprs397515493
ensemblrs397515493
gopubmedrs397515493
geneviewrs397515493
scholarrs397515493
googlers397515493
pharmgkbrs397515493
gwascentralrs397515493
openSNPrs397515493
23andMers397515493
23andMe allrs397515493
SNP Nexus

SNPshotrs397515493
SNPdbers397515493
MSV3drs397515493
GWAS Ctlgrs397515493
Max Magnitude0
ClinVar
Risk rs397515493(;)
Alt rs397515493(;)
Reference rs397515493(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938034delC
CLNSRC
CLNACC RCV000021638.1,