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rs281874740

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281874740(C;G)
Make rs281874740(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108687623
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874740
ebirs281874740
HLIrs281874740
Exacrs281874740
Varsomers281874740
Maprs281874740
PheGenIrs281874740
hapmaprs281874740
1000 genomesrs281874740
hgdprs281874740
ensemblrs281874740
gopubmedrs281874740
geneviewrs281874740
scholarrs281874740
googlers281874740
pharmgkbrs281874740
gwascentralrs281874740
openSNPrs281874740
23andMers281874740
23andMe allrs281874740
SNP Nexus

SNPshotrs281874740
SNPdbers281874740
MSV3drs281874740
GWAS Ctlgrs281874740
Max Magnitude0
ClinVar
Risk rs281874740(G;G)
Alt rs281874740(G;G)
Reference rs281874740(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107930853C>G
CLNSRC ARUP COL4A5
CLNACC RCV000032087.1,


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