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rs281874656

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874656(A;A)
Make rs281874656(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108586666
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874656
ebirs281874656
HLIrs281874656
Exacrs281874656
Varsomers281874656
Maprs281874656
PheGenIrs281874656
hapmaprs281874656
1000 genomesrs281874656
hgdprs281874656
ensemblrs281874656
gopubmedrs281874656
geneviewrs281874656
scholarrs281874656
googlers281874656
pharmgkbrs281874656
gwascentralrs281874656
openSNPrs281874656
23andMers281874656
23andMe allrs281874656
SNP Nexus

SNPshotrs281874656
SNPdbers281874656
MSV3drs281874656
GWAS Ctlgrs281874656
Max Magnitude0
ClinVar
Risk rs281874656(A;A)
Alt rs281874656(A;A)
Reference rs281874656(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107829896G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021242.1,


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