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

rs281874714

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874714(A;A)
Make rs281874714(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108655458
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874714
ebirs281874714
HLIrs281874714
Exacrs281874714
Varsomers281874714
Maprs281874714
PheGenIrs281874714
hapmaprs281874714
1000 genomesrs281874714
hgdprs281874714
ensemblrs281874714
gopubmedrs281874714
geneviewrs281874714
scholarrs281874714
googlers281874714
pharmgkbrs281874714
gwascentralrs281874714
openSNPrs281874714
23andMers281874714
23andMe allrs281874714
SNP Nexus

SNPshotrs281874714
SNPdbers281874714
MSV3drs281874714
GWAS Ctlgrs281874714
Max Magnitude0
ClinVar
Risk rs281874714(A;A)
Alt rs281874714(A;A)
Reference rs281874714(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107898688G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021501.1,


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