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rs281874750

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281874750(G;G)
Make rs281874750(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108695357
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874750
ebirs281874750
HLIrs281874750
Exacrs281874750
Varsomers281874750
Maprs281874750
PheGenIrs281874750
hapmaprs281874750
1000 genomesrs281874750
hgdprs281874750
ensemblrs281874750
gopubmedrs281874750
geneviewrs281874750
scholarrs281874750
googlers281874750
pharmgkbrs281874750
gwascentralrs281874750
openSNPrs281874750
23andMers281874750
23andMe allrs281874750
SNP Nexus

SNPshotrs281874750
SNPdbers281874750
MSV3drs281874750
GWAS Ctlgrs281874750
Max Magnitude0
ClinVar
Risk rs281874750(G;G)
Alt rs281874750(G;G)
Reference rs281874750(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938587T>G
CLNSRC ARUP COL4A5
CLNACC RCV000021658.1,


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