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rs1060499694

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060499694(-;-)
Make rs1060499694(-;C)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position108601891
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs1060499694
dbSNP (old)rs1060499694
ClinGenrs1060499694
ebirs1060499694
HLIrs1060499694
Exacrs1060499694
Gnomadrs1060499694
Varsomers1060499694
Maprs1060499694
PheGenIrs1060499694
Biobankrs1060499694
1000 genomesrs1060499694
hgdprs1060499694
ensemblrs1060499694
gopubmedrs1060499694
geneviewrs1060499694
scholarrs1060499694
googlers1060499694
pharmgkbrs1060499694
gwascentralrs1060499694
openSNPrs1060499694
23andMers1060499694
23andMe allrs1060499694
SNPshotrs1060499694
SNPdbers1060499694
MSV3drs1060499694
GWAS Ctlgrs1060499694
Max Magnitude0
ClinVar
Risk rs1060499694(-;-)
Alt rs1060499694(-;-)
Reference Rs1060499694(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107845121delC
CLNSRC
CLNACC RCV000449518.1,