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rs281874666

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281874666(-;-)
Make rs281874666(-;C)
Make rs281874666(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591597
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874666
ebirs281874666
HLIrs281874666
Exacrs281874666
Varsomers281874666
Maprs281874666
PheGenIrs281874666
hapmaprs281874666
1000 genomesrs281874666
hgdprs281874666
ensemblrs281874666
gopubmedrs281874666
geneviewrs281874666
scholarrs281874666
googlers281874666
pharmgkbrs281874666
gwascentralrs281874666
openSNPrs281874666
23andMers281874666
23andMe allrs281874666
SNP Nexus

SNPshotrs281874666
SNPdbers281874666
MSV3drs281874666
GWAS Ctlgrs281874666
Max Magnitude0
ClinVar
Risk rs281874666(C;C)
Alt rs281874666(C;C)
Reference rs281874666(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834827dupC
CLNSRC ClinVar
CLNACC RCV000021284.1,


[PMID 20378821OA-icon.png] Genotype-phenotype correlation in X-linked Alport syndrome.