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rs397515492

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397515492(-;-)
Make rs397515492(-;T)
Make rs397515492(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108655410
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs397515492
ebirs397515492
HLIrs397515492
Exacrs397515492
Varsomers397515492
Maprs397515492
PheGenIrs397515492
hapmaprs397515492
1000 genomesrs397515492
hgdprs397515492
ensemblrs397515492
gopubmedrs397515492
geneviewrs397515492
scholarrs397515492
googlers397515492
pharmgkbrs397515492
gwascentralrs397515492
openSNPrs397515492
23andMers397515492
23andMe allrs397515492
SNP Nexus

SNPshotrs397515492
SNPdbers397515492
MSV3drs397515492
GWAS Ctlgrs397515492
Max Magnitude0
ClinVar
Risk rs397515492(T;T)
Alt rs397515492(T;T)
Reference rs397515492(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107898640_107898641insT
CLNSRC ClinVar
CLNACC RCV000021497.1,