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rs281874685

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874685(C;C)
Make rs281874685(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108601458
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874685
ebirs281874685
HLIrs281874685
Exacrs281874685
Varsomers281874685
Maprs281874685
PheGenIrs281874685
hapmaprs281874685
1000 genomesrs281874685
hgdprs281874685
ensemblrs281874685
gopubmedrs281874685
geneviewrs281874685
scholarrs281874685
googlers281874685
pharmgkbrs281874685
gwascentralrs281874685
openSNPrs281874685
23andMers281874685
23andMe allrs281874685
SNP Nexus

SNPshotrs281874685
SNPdbers281874685
MSV3drs281874685
GWAS Ctlgrs281874685
Max Magnitude0
ClinVar
Risk rs281874685(C;C)
Alt rs281874685(C;C)
Reference rs281874685(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107844688G>C
CLNSRC ARUP COL4A5
CLNACC RCV000032063.1,


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