Have questions? Visit https://www.reddit.com/r/SNPedia

rs281874704

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874704(A;A)
Make rs281874704(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108621856
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874704
ebirs281874704
HLIrs281874704
Exacrs281874704
Varsomers281874704
Maprs281874704
PheGenIrs281874704
hapmaprs281874704
1000 genomesrs281874704
hgdprs281874704
ensemblrs281874704
gopubmedrs281874704
geneviewrs281874704
scholarrs281874704
googlers281874704
pharmgkbrs281874704
gwascentralrs281874704
openSNPrs281874704
23andMers281874704
23andMe allrs281874704
SNP Nexus

SNPshotrs281874704
SNPdbers281874704
MSV3drs281874704
GWAS Ctlgrs281874704
Max Magnitude0
ClinVar
Risk rs281874704(A;A)
Alt rs281874704(A;A)
Reference rs281874704(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107865086G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021437.1,


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