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rs281874757

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281874757(-;-)
Make rs281874757(-;GA)
Make rs281874757(GA;GA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108575936
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874757
ebirs281874757
HLIrs281874757
Exacrs281874757
Varsomers281874757
Maprs281874757
PheGenIrs281874757
hapmaprs281874757
1000 genomesrs281874757
hgdprs281874757
ensemblrs281874757
gopubmedrs281874757
geneviewrs281874757
scholarrs281874757
googlers281874757
pharmgkbrs281874757
gwascentralrs281874757
openSNPrs281874757
23andMers281874757
23andMe allrs281874757
SNP Nexus

SNPshotrs281874757
SNPdbers281874757
MSV3drs281874757
GWAS Ctlgrs281874757
Max Magnitude0
ClinVar
Risk rs281874757(AG;AG)
Alt rs281874757(AG;AG)
Reference rs281874757(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107819166_107819167insGA
CLNSRC ClinVar
CLNACC RCV000032052.1,


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