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rs281874696

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874696(C;C)
Make rs281874696(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108615015
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874696
ebirs281874696
HLIrs281874696
Exacrs281874696
Varsomers281874696
Maprs281874696
PheGenIrs281874696
hapmaprs281874696
1000 genomesrs281874696
hgdprs281874696
ensemblrs281874696
gopubmedrs281874696
geneviewrs281874696
scholarrs281874696
googlers281874696
pharmgkbrs281874696
gwascentralrs281874696
openSNPrs281874696
23andMers281874696
23andMe allrs281874696
SNP Nexus

SNPshotrs281874696
SNPdbers281874696
MSV3drs281874696
GWAS Ctlgrs281874696
Max Magnitude0
ClinVar
Risk rs281874696(C;C)
Alt rs281874696(C;C)
Reference rs281874696(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107858245G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021408.1,


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