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rs587776404

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776404(A;A)
Make rs587776404(A;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position108694922
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs587776404
dbSNP (classic)rs587776404
ClinGenrs587776404
ebirs587776404
HLIrs587776404
Exacrs587776404
Gnomadrs587776404
Varsomers587776404
LitVarrs587776404
Maprs587776404
PheGenIrs587776404
Biobankrs587776404
1000 genomesrs587776404
hgdprs587776404
ensemblrs587776404
geneviewrs587776404
scholarrs587776404
googlers587776404
pharmgkbrs587776404
gwascentralrs587776404
openSNPrs587776404
23andMers587776404
SNPshotrs587776404
SNPdbers587776404
MSV3drs587776404
GWAS Ctlgrs587776404
Max Magnitude0
ClinVar
Risk rs587776404(A;A)
Alt rs587776404(A;A)
Reference Rs587776404(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938152G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021654.1,