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rs281874700

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874700(-;-)
Make rs281874700(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108621811
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874700
ebirs281874700
HLIrs281874700
Exacrs281874700
Varsomers281874700
Maprs281874700
PheGenIrs281874700
hapmaprs281874700
1000 genomesrs281874700
hgdprs281874700
ensemblrs281874700
gopubmedrs281874700
geneviewrs281874700
scholarrs281874700
googlers281874700
pharmgkbrs281874700
gwascentralrs281874700
openSNPrs281874700
23andMers281874700
23andMe allrs281874700
SNP Nexus

SNPshotrs281874700
SNPdbers281874700
MSV3drs281874700
GWAS Ctlgrs281874700
Max Magnitude0
ClinVar
Risk rs281874700(;)
Alt rs281874700(;)
Reference rs281874700(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107865041delG
CLNSRC ClinVar
CLNACC RCV000021432.1,


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