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rs281874712

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874712(G;T)
Make rs281874712(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108626309
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874712
ebirs281874712
HLIrs281874712
Exacrs281874712
Varsomers281874712
Maprs281874712
PheGenIrs281874712
hapmaprs281874712
1000 genomesrs281874712
hgdprs281874712
ensemblrs281874712
gopubmedrs281874712
geneviewrs281874712
scholarrs281874712
googlers281874712
pharmgkbrs281874712
gwascentralrs281874712
openSNPrs281874712
23andMers281874712
23andMe allrs281874712
SNP Nexus

SNPshotrs281874712
SNPdbers281874712
MSV3drs281874712
GWAS Ctlgrs281874712
Max Magnitude0
ClinVar
Risk rs281874712(T;T)
Alt rs281874712(T;T)
Reference rs281874712(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107869539G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021484.1,


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