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rs281874725

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874725(A;A)
Make rs281874725(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108680678
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874725
ebirs281874725
HLIrs281874725
Exacrs281874725
Varsomers281874725
Maprs281874725
PheGenIrs281874725
hapmaprs281874725
1000 genomesrs281874725
hgdprs281874725
ensemblrs281874725
gopubmedrs281874725
geneviewrs281874725
scholarrs281874725
googlers281874725
pharmgkbrs281874725
gwascentralrs281874725
openSNPrs281874725
23andMers281874725
23andMe allrs281874725
SNP Nexus

SNPshotrs281874725
SNPdbers281874725
MSV3drs281874725
GWAS Ctlgrs281874725
Max Magnitude0
ClinVar
Risk rs281874725(A;A)
Alt rs281874725(A;A)
Reference rs281874725(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107923908G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021571.1,


[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.


[PMID 17660027] Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.