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

rs281874734

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874734(C;C)
Make rs281874734(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108687481
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874734
ebirs281874734
HLIrs281874734
Exacrs281874734
Varsomers281874734
Maprs281874734
PheGenIrs281874734
hapmaprs281874734
1000 genomesrs281874734
hgdprs281874734
ensemblrs281874734
gopubmedrs281874734
geneviewrs281874734
scholarrs281874734
googlers281874734
pharmgkbrs281874734
gwascentralrs281874734
openSNPrs281874734
23andMers281874734
23andMe allrs281874734
SNP Nexus

SNPshotrs281874734
SNPdbers281874734
MSV3drs281874734
GWAS Ctlgrs281874734
Max Magnitude0
ClinVar
Risk rs281874734(C;C)
Alt rs281874734(C;C)
Reference rs281874734(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107930711G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021605.1,


[PMID 11223851] Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.