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rs281874682

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281874682(C;T)
Make rs281874682(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108598805
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874682
dbSNP (old)rs281874682
ClinGenrs281874682
ebirs281874682
HLIrs281874682
Exacrs281874682
Gnomadrs281874682
Varsomers281874682
Maprs281874682
PheGenIrs281874682
Biobankrs281874682
1000 genomesrs281874682
hgdprs281874682
ensemblrs281874682
gopubmedrs281874682
geneviewrs281874682
scholarrs281874682
googlers281874682
pharmgkbrs281874682
gwascentralrs281874682
openSNPrs281874682
23andMers281874682
23andMe allrs281874682
SNP Nexus

SNPshotrs281874682
SNPdbers281874682
MSV3drs281874682
GWAS Ctlgrs281874682
Max Magnitude0
ClinVar
Risk rs281874682(A;A) rs281874682(T;T)
Alt rs281874682(A;A) rs281874682(T;T)
Reference Rs281874682(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107842035C>T
CLNSRC ARUP COL4A5
CLNACC RCV000032061.1,


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