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rs281874681

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281874681(C;T)
Make rs281874681(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108598778
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874681
dbSNP (old)rs281874681
ClinGenrs281874681
ebirs281874681
HLIrs281874681
Exacrs281874681
Varsomers281874681
Maprs281874681
PheGenIrs281874681
Biobankrs281874681
1000 genomesrs281874681
hgdprs281874681
ensemblrs281874681
gopubmedrs281874681
geneviewrs281874681
scholarrs281874681
googlers281874681
pharmgkbrs281874681
gwascentralrs281874681
openSNPrs281874681
23andMers281874681
23andMe allrs281874681
SNP Nexus

SNPshotrs281874681
SNPdbers281874681
MSV3drs281874681
GWAS Ctlgrs281874681
Max Magnitude0
ClinVar
Risk rs281874681(T;T)
Alt rs281874681(T;T)
Reference Rs281874681(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107842008C>T
CLNSRC ARUP COL4A5
CLNACC RCV000021332.1,


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