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rs281874697

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874697(C;C)
Make rs281874697(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108620327
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874697
ebirs281874697
HLIrs281874697
Exacrs281874697
Varsomers281874697
Maprs281874697
PheGenIrs281874697
hapmaprs281874697
1000 genomesrs281874697
hgdprs281874697
ensemblrs281874697
gopubmedrs281874697
geneviewrs281874697
scholarrs281874697
googlers281874697
pharmgkbrs281874697
gwascentralrs281874697
openSNPrs281874697
23andMers281874697
23andMe allrs281874697
SNP Nexus

SNPshotrs281874697
SNPdbers281874697
MSV3drs281874697
GWAS Ctlgrs281874697
Max Magnitude0
ClinVar
Risk rs281874697(C;C)
Alt rs281874697(C;C)
Reference rs281874697(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107863557G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021417.1,


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