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rs281874720

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCCCCAGGCCCTCCTGG;CCCCCAGGCCCTCCTGG) 0 common in clinvar
Make rs281874720(CCCCCAGGCCCTCCTGG;T)
Make rs281874720(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108668420
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874720
dbSNP (old)rs281874720
ClinGenrs281874720
ebirs281874720
HLIrs281874720
Exacrs281874720
Varsomers281874720
Maprs281874720
PheGenIrs281874720
Biobankrs281874720
1000 genomesrs281874720
hgdprs281874720
ensemblrs281874720
gopubmedrs281874720
geneviewrs281874720
scholarrs281874720
googlers281874720
pharmgkbrs281874720
gwascentralrs281874720
openSNPrs281874720
23andMers281874720
23andMe allrs281874720
SNP Nexus

SNPshotrs281874720
SNPdbers281874720
MSV3drs281874720
GWAS Ctlgrs281874720
Max Magnitude0
ClinVar
Risk rs281874720(T;T)
Alt rs281874720(T;T)
Reference Rs281874720(CCCCCAGGCCCTCCTGG;CCCCCAGGCCCTCCTGG)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911650_107911666del17insT
CLNSRC ClinVar
CLNACC RCV000021552.1,


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