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rs281874708

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281874708(-;-)
Make rs281874708(-;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108624265
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874708
ebirs281874708
HLIrs281874708
Exacrs281874708
Varsomers281874708
Maprs281874708
PheGenIrs281874708
hapmaprs281874708
1000 genomesrs281874708
hgdprs281874708
ensemblrs281874708
gopubmedrs281874708
geneviewrs281874708
scholarrs281874708
googlers281874708
pharmgkbrs281874708
gwascentralrs281874708
openSNPrs281874708
23andMers281874708
23andMe allrs281874708
SNP Nexus

SNPshotrs281874708
SNPdbers281874708
MSV3drs281874708
GWAS Ctlgrs281874708
Max Magnitude0
ClinVar
Risk rs281874708(;)
Alt rs281874708(;)
Reference rs281874708(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107867495delT
CLNSRC ClinVar
CLNACC RCV000032074.1,


[PMID 21332469] X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.