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rs281874716

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GAAGGGT;GAAGGGT) 0 common in clinvar
(GGGTGAA;GGGTGAA) 0 common in clinvar
Make rs281874716(-;-)
Make rs281874716(-;GGGTGAA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108666584
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874716
ebirs281874716
HLIrs281874716
Exacrs281874716
Varsomers281874716
Maprs281874716
PheGenIrs281874716
hapmaprs281874716
1000 genomesrs281874716
hgdprs281874716
ensemblrs281874716
gopubmedrs281874716
geneviewrs281874716
scholarrs281874716
googlers281874716
pharmgkbrs281874716
gwascentralrs281874716
openSNPrs281874716
23andMers281874716
23andMe allrs281874716
SNP Nexus

SNPshotrs281874716
SNPdbers281874716
MSV3drs281874716
GWAS Ctlgrs281874716
Max Magnitude0
ClinVar
Risk rs281874716(;)
Alt rs281874716(;)
Reference rs281874716(GAAGGGT;GAAGGGT)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107909814_107909820delGGGTGAA
CLNSRC ClinVar
CLNACC RCV000021523.1,


[PMID 8651296OA-icon.png] X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.