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rs281874677

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874677(A;A)
Make rs281874677(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597533
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874677
ebirs281874677
HLIrs281874677
Exacrs281874677
Varsomers281874677
Maprs281874677
PheGenIrs281874677
hapmaprs281874677
1000 genomesrs281874677
hgdprs281874677
ensemblrs281874677
gopubmedrs281874677
geneviewrs281874677
scholarrs281874677
googlers281874677
pharmgkbrs281874677
gwascentralrs281874677
openSNPrs281874677
23andMers281874677
23andMe allrs281874677
SNP Nexus

SNPshotrs281874677
SNPdbers281874677
MSV3drs281874677
GWAS Ctlgrs281874677
Max Magnitude0
ClinVar
Risk rs281874677(A;A)
Alt rs281874677(A;A)
Reference rs281874677(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840763G>A
CLNSRC ARUP COL4A5
CLNACC RCV000032059.1,


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