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rs281874680

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874680(A;A)
Make rs281874680(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108598757
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874680
ClinGenrs281874680
ebirs281874680
HLIrs281874680
Exacrs281874680
Varsomers281874680
Maprs281874680
PheGenIrs281874680
hapmaprs281874680
1000 genomesrs281874680
hgdprs281874680
ensemblrs281874680
gopubmedrs281874680
geneviewrs281874680
scholarrs281874680
googlers281874680
pharmgkbrs281874680
gwascentralrs281874680
openSNPrs281874680
23andMers281874680
23andMe allrs281874680
SNP Nexus

SNPshotrs281874680
SNPdbers281874680
MSV3drs281874680
GWAS Ctlgrs281874680
Max Magnitude0
ClinVar
Risk rs281874680(A;A)
Alt rs281874680(A;A)
Reference Rs281874680(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107841987G>A
CLNSRC ARUP COL4A5
CLNACC RCV000032060.1,


[PMID 21505094] Twenty-one novel mutations identified in the COL4A5 gene in Chinese patients with X-linked Alport's syndrome confirmed by skin biopsy.