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rs281874748

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874748(-;-)
Make rs281874748(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108573584
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874748
ebirs281874748
HLIrs281874748
Exacrs281874748
Varsomers281874748
Maprs281874748
PheGenIrs281874748
hapmaprs281874748
1000 genomesrs281874748
hgdprs281874748
ensemblrs281874748
gopubmedrs281874748
geneviewrs281874748
scholarrs281874748
googlers281874748
pharmgkbrs281874748
gwascentralrs281874748
openSNPrs281874748
23andMers281874748
23andMe allrs281874748
SNP Nexus

SNPshotrs281874748
SNPdbers281874748
MSV3drs281874748
GWAS Ctlgrs281874748
Max Magnitude0
ClinVar
Risk rs281874748(;)
Alt rs281874748(;)
Reference rs281874748(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107816814delG
CLNSRC ClinVar
CLNACC RCV000032051.1,


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