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rs281874767

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281874767(-;-)
Make rs281874767(-;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108580720
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874767
ebirs281874767
HLIrs281874767
Exacrs281874767
Varsomers281874767
Maprs281874767
PheGenIrs281874767
hapmaprs281874767
1000 genomesrs281874767
hgdprs281874767
ensemblrs281874767
gopubmedrs281874767
geneviewrs281874767
scholarrs281874767
googlers281874767
pharmgkbrs281874767
gwascentralrs281874767
openSNPrs281874767
23andMers281874767
23andMe allrs281874767
SNP Nexus

SNPshotrs281874767
SNPdbers281874767
MSV3drs281874767
GWAS Ctlgrs281874767
Max Magnitude0
ClinVar
Risk rs281874767(;)
Alt rs281874767(;)
Reference rs281874767(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107823950delA
CLNSRC ClinVar
CLNACC RCV000021210.1,


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