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

rs281874663

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874663(A;A)
Make rs281874663(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591151
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874663
ebirs281874663
HLIrs281874663
Exacrs281874663
Varsomers281874663
Maprs281874663
PheGenIrs281874663
hapmaprs281874663
1000 genomesrs281874663
hgdprs281874663
ensemblrs281874663
gopubmedrs281874663
geneviewrs281874663
scholarrs281874663
googlers281874663
pharmgkbrs281874663
gwascentralrs281874663
openSNPrs281874663
23andMers281874663
23andMe allrs281874663
SNP Nexus

SNPshotrs281874663
SNPdbers281874663
MSV3drs281874663
GWAS Ctlgrs281874663
Max Magnitude0
ClinVar
Risk rs281874663(A;A)
Alt rs281874663(A;A)
Reference rs281874663(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834381G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021269.1,


[PMID 8940267OA-icon.png] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.


[PMID 9848783] High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.