Have questions? Visit https://www.reddit.com/r/SNPedia

rs397515497

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397515497(A;G)
Make rs397515497(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108626206
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs397515497
dbSNP (classic)rs397515497
ClinGenrs397515497
ebirs397515497
HLIrs397515497
Exacrs397515497
Gnomadrs397515497
Varsomers397515497
LitVarrs397515497
Maprs397515497
PheGenIrs397515497
Biobankrs397515497
1000 genomesrs397515497
hgdprs397515497
ensemblrs397515497
geneviewrs397515497
scholarrs397515497
googlers397515497
pharmgkbrs397515497
gwascentralrs397515497
openSNPrs397515497
23andMers397515497
SNPshotrs397515497
SNPdbers397515497
MSV3drs397515497
GWAS Ctlgrs397515497
Max Magnitude0
ClinVar
Risk rs397515497(G;G)
Alt rs397515497(G;G)
Reference Rs397515497(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107869436A>G
CLNSRC ClinVar
CLNACC RCV000032075.1,