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rs281874690

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874690(A;A)
Make rs281874690(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108606802
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874690
dbSNP (old)rs281874690
ClinGenrs281874690
ebirs281874690
HLIrs281874690
Exacrs281874690
Gnomadrs281874690
Varsomers281874690
Maprs281874690
PheGenIrs281874690
Biobankrs281874690
1000 genomesrs281874690
hgdprs281874690
ensemblrs281874690
gopubmedrs281874690
geneviewrs281874690
scholarrs281874690
googlers281874690
pharmgkbrs281874690
gwascentralrs281874690
openSNPrs281874690
23andMers281874690
23andMe allrs281874690
SNP Nexus

SNPshotrs281874690
SNPdbers281874690
MSV3drs281874690
GWAS Ctlgrs281874690
Max Magnitude0
ClinVar
Risk rs281874690(A;A)
Alt rs281874690(A;A)
Reference Rs281874690(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107850032G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021384.1,


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