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rs869025333

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025333(G;T)
Make rs869025333(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position108539746
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs869025333
dbSNP (classic)rs869025333
ClinGenrs869025333
ebirs869025333
HLIrs869025333
Exacrs869025333
Gnomadrs869025333
Varsomers869025333
LitVarrs869025333
Maprs869025333
PheGenIrs869025333
Biobankrs869025333
1000 genomesrs869025333
hgdprs869025333
ensemblrs869025333
geneviewrs869025333
scholarrs869025333
googlers869025333
pharmgkbrs869025333
gwascentralrs869025333
openSNPrs869025333
23andMers869025333
SNPshotrs869025333
SNPdbers869025333
MSV3drs869025333
GWAS Ctlgrs869025333
Max Magnitude0
ClinVar
Risk rs869025333(T;T)
Alt rs869025333(T;T)
Reference Rs869025333(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107782976G>T
CLNSRC
CLNACC RCV000207631.1,