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rs281874702

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874702(G;T)
Make rs281874702(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108621821
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874702
ebirs281874702
HLIrs281874702
Exacrs281874702
Varsomers281874702
Maprs281874702
PheGenIrs281874702
hapmaprs281874702
1000 genomesrs281874702
hgdprs281874702
ensemblrs281874702
gopubmedrs281874702
geneviewrs281874702
scholarrs281874702
googlers281874702
pharmgkbrs281874702
gwascentralrs281874702
openSNPrs281874702
23andMers281874702
23andMe allrs281874702
SNP Nexus

SNPshotrs281874702
SNPdbers281874702
MSV3drs281874702
GWAS Ctlgrs281874702
Max Magnitude0
ClinVar
Risk rs281874702(T;T)
Alt rs281874702(T;T)
Reference rs281874702(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107865051G>T
CLNSRC ARUP COL4A5
CLNACC RCV000032072.1,


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