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rs397515494

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397515494(-;-)
Make rs397515494(-;T)
Make rs397515494(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108695116
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs397515494
ebirs397515494
HLIrs397515494
Exacrs397515494
Varsomers397515494
Maprs397515494
PheGenIrs397515494
hapmaprs397515494
1000 genomesrs397515494
hgdprs397515494
ensemblrs397515494
gopubmedrs397515494
geneviewrs397515494
scholarrs397515494
googlers397515494
pharmgkbrs397515494
gwascentralrs397515494
openSNPrs397515494
23andMers397515494
23andMe allrs397515494
SNP Nexus

SNPshotrs397515494
SNPdbers397515494
MSV3drs397515494
GWAS Ctlgrs397515494
Max Magnitude0
ClinVar
Risk rs397515494(T;T)
Alt rs397515494(T;T)
Reference rs397515494(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938346_107938347insT
CLNSRC ClinVar
CLNACC RCV000021656.1,