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rs869025331

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025331(A;A)
Make rs869025331(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position108606893
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs869025331
dbSNP (classic)rs869025331
ClinGenrs869025331
ebirs869025331
HLIrs869025331
Exacrs869025331
Gnomadrs869025331
Varsomers869025331
LitVarrs869025331
Maprs869025331
PheGenIrs869025331
Biobankrs869025331
1000 genomesrs869025331
hgdprs869025331
ensemblrs869025331
geneviewrs869025331
scholarrs869025331
googlers869025331
pharmgkbrs869025331
gwascentralrs869025331
openSNPrs869025331
23andMers869025331
SNPshotrs869025331
SNPdbers869025331
MSV3drs869025331
GWAS Ctlgrs869025331
Max Magnitude0
ClinVar
Risk rs869025331(A;A)
Alt rs869025331(A;A)
Reference Rs869025331(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107850123G>A
CLNSRC
CLNACC RCV000207617.1,