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rs397515496

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515496(G;T)
Make rs397515496(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108621803
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs397515496
ebirs397515496
HLIrs397515496
Exacrs397515496
Varsomers397515496
Maprs397515496
PheGenIrs397515496
hapmaprs397515496
1000 genomesrs397515496
hgdprs397515496
ensemblrs397515496
gopubmedrs397515496
geneviewrs397515496
scholarrs397515496
googlers397515496
pharmgkbrs397515496
gwascentralrs397515496
openSNPrs397515496
23andMers397515496
23andMe allrs397515496
SNP Nexus

SNPshotrs397515496
SNPdbers397515496
MSV3drs397515496
GWAS Ctlgrs397515496
Max Magnitude0
ClinVar
Risk rs397515496(T;T)
Alt rs397515496(T;T)
Reference Rs397515496(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107865033G>T
CLNSRC ClinVar
CLNACC RCV000032070.1,