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rs281874665

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCAGGCCCC;CCAGGCCCC) 0 common in clinvar
(CCCCCCAGG;CCCCCCAGG) 0 common in clinvar
Make rs281874665(-;-)
Make rs281874665(-;CCCCCCAGG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591592
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874665
ebirs281874665
HLIrs281874665
Exacrs281874665
Varsomers281874665
Maprs281874665
PheGenIrs281874665
hapmaprs281874665
1000 genomesrs281874665
hgdprs281874665
ensemblrs281874665
gopubmedrs281874665
geneviewrs281874665
scholarrs281874665
googlers281874665
pharmgkbrs281874665
gwascentralrs281874665
openSNPrs281874665
23andMers281874665
23andMe allrs281874665
SNP Nexus

SNPshotrs281874665
SNPdbers281874665
MSV3drs281874665
GWAS Ctlgrs281874665
Max Magnitude0
ClinVar
Risk rs281874665(;)
Alt rs281874665(;)
Reference rs281874665(CCAGGCCCC;CCAGGCCCC)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834822_107834830delCCCCCCAGG
CLNSRC ClinVar
CLNACC RCV000021282.2,


[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.