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rs606231373

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs606231373(-;T)
Make rs606231373(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position108687528
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs606231373
dbSNP (classic)rs606231373
ClinGenrs606231373
ebirs606231373
HLIrs606231373
Exacrs606231373
Gnomadrs606231373
Varsomers606231373
LitVarrs606231373
Maprs606231373
PheGenIrs606231373
Biobankrs606231373
1000 genomesrs606231373
hgdprs606231373
ensemblrs606231373
geneviewrs606231373
scholarrs606231373
googlers606231373
pharmgkbrs606231373
gwascentralrs606231373
openSNPrs606231373
23andMers606231373
SNPshotrs606231373
SNPdbers606231373
MSV3drs606231373
GWAS Ctlgrs606231373
Max Magnitude0
ClinVar
Risk rs606231373(T;T)
Alt rs606231373(T;T)
Reference Rs606231373(-;-)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107930758dupT
CLNSRC
CLNACC RCV000021614.1,