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rs281874695

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874695(A;A)
Make rs281874695(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108614998
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874695
ebirs281874695
HLIrs281874695
Exacrs281874695
Varsomers281874695
Maprs281874695
PheGenIrs281874695
hapmaprs281874695
1000 genomesrs281874695
hgdprs281874695
ensemblrs281874695
gopubmedrs281874695
geneviewrs281874695
scholarrs281874695
googlers281874695
pharmgkbrs281874695
gwascentralrs281874695
openSNPrs281874695
23andMers281874695
23andMe allrs281874695
SNP Nexus

SNPshotrs281874695
SNPdbers281874695
MSV3drs281874695
GWAS Ctlgrs281874695
Max Magnitude0
ClinVar
Risk rs281874695(A;A)
Alt rs281874695(A;A)
Reference rs281874695(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107858228G>A
CLNSRC ARUP COL4A5
CLNACC RCV000032066.1,


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