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rs281874717

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874717(A;A)
Make rs281874717(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108667166
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874717
ebirs281874717
HLIrs281874717
Exacrs281874717
Varsomers281874717
Maprs281874717
PheGenIrs281874717
hapmaprs281874717
1000 genomesrs281874717
hgdprs281874717
ensemblrs281874717
gopubmedrs281874717
geneviewrs281874717
scholarrs281874717
googlers281874717
pharmgkbrs281874717
gwascentralrs281874717
openSNPrs281874717
23andMers281874717
23andMe allrs281874717
SNP Nexus

SNPshotrs281874717
SNPdbers281874717
MSV3drs281874717
GWAS Ctlgrs281874717
Max Magnitude0
ClinVar
Risk rs281874717(A;A)
Alt rs281874717(A;A)
Reference rs281874717(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107910396G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021531.1,


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