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rs281874760

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGCCTGCAGAGGC;AGCCTGCAGAGGC) 0 common in clinvar
(GGCAGCCTGCAGA;GGCAGCCTGCAGA) 0 common in clinvar
Make rs281874760(-;-)
Make rs281874760(-;AGCCTGCAGAGGC)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108440190
GeneCOL4A5, COL4A6
is asnp
is mentioned by
dbSNPrs281874760
ebirs281874760
HLIrs281874760
Exacrs281874760
Varsomers281874760
Maprs281874760
PheGenIrs281874760
hapmaprs281874760
1000 genomesrs281874760
hgdprs281874760
ensemblrs281874760
gopubmedrs281874760
geneviewrs281874760
scholarrs281874760
googlers281874760
pharmgkbrs281874760
gwascentralrs281874760
openSNPrs281874760
23andMers281874760
23andMe allrs281874760
SNP Nexus

SNPshotrs281874760
SNPdbers281874760
MSV3drs281874760
GWAS Ctlgrs281874760
Max Magnitude0
ClinVar
Risk rs281874760(;)
Alt rs281874760(;)
Reference rs281874760(GGCAGCCTGCAGA;GGCAGCCTGCAGA)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5 COL4A6
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107683420_107683432delAGCCTGCAGAGGC
CLNSRC ClinVar
CLNACC RCV000021107.1,


[PMID 20378821OA-icon.png] Genotype-phenotype correlation in X-linked Alport syndrome.