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rs281874732

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874732(-;-)
Make rs281874732(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108686067
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874732
dbSNP (old)rs281874732
ClinGenrs281874732
ebirs281874732
HLIrs281874732
Exacrs281874732
Gnomadrs281874732
Varsomers281874732
Maprs281874732
PheGenIrs281874732
Biobankrs281874732
1000 genomesrs281874732
hgdprs281874732
ensemblrs281874732
gopubmedrs281874732
geneviewrs281874732
scholarrs281874732
googlers281874732
pharmgkbrs281874732
gwascentralrs281874732
openSNPrs281874732
23andMers281874732
23andMe allrs281874732
SNP Nexus

SNPshotrs281874732
SNPdbers281874732
MSV3drs281874732
GWAS Ctlgrs281874732
Max Magnitude0
ClinVar
Risk rs281874732(-;-)
Alt rs281874732(-;-)
Reference Rs281874732(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107929297delG
CLNSRC ClinVar
CLNACC RCV000032082.1,


[PMID 21505094] Twenty-one novel mutations identified in the COL4A5 gene in Chinese patients with X-linked Alport's syndrome confirmed by skin biopsy.