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rs281874688

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874688(G;T)
Make rs281874688(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108603062
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874688
ebirs281874688
HLIrs281874688
Exacrs281874688
Varsomers281874688
Maprs281874688
PheGenIrs281874688
hapmaprs281874688
1000 genomesrs281874688
hgdprs281874688
ensemblrs281874688
gopubmedrs281874688
geneviewrs281874688
scholarrs281874688
googlers281874688
pharmgkbrs281874688
gwascentralrs281874688
openSNPrs281874688
23andMers281874688
23andMe allrs281874688
SNP Nexus

SNPshotrs281874688
SNPdbers281874688
MSV3drs281874688
GWAS Ctlgrs281874688
Max Magnitude0
ClinVar
Risk rs281874688(T;T)
Alt rs281874688(T;T)
Reference rs281874688(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107846292G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021378.1,


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