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rs281874683

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874683(A;A)
Make rs281874683(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108598826
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874683
ebirs281874683
HLIrs281874683
Exacrs281874683
Varsomers281874683
Maprs281874683
PheGenIrs281874683
hapmaprs281874683
1000 genomesrs281874683
hgdprs281874683
ensemblrs281874683
gopubmedrs281874683
geneviewrs281874683
scholarrs281874683
googlers281874683
pharmgkbrs281874683
gwascentralrs281874683
openSNPrs281874683
23andMers281874683
23andMe allrs281874683
SNP Nexus

SNPshotrs281874683
SNPdbers281874683
MSV3drs281874683
GWAS Ctlgrs281874683
Max Magnitude0
ClinVar
Risk rs281874683(A;A)
Alt rs281874683(A;A)
Reference rs281874683(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107842056G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021339.1,


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


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