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rs281874759

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs281874759(-;-)
Make rs281874759(-;GC)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108577953
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874759
ebirs281874759
HLIrs281874759
Exacrs281874759
Varsomers281874759
Maprs281874759
PheGenIrs281874759
hapmaprs281874759
1000 genomesrs281874759
hgdprs281874759
ensemblrs281874759
gopubmedrs281874759
geneviewrs281874759
scholarrs281874759
googlers281874759
pharmgkbrs281874759
gwascentralrs281874759
openSNPrs281874759
23andMers281874759
23andMe allrs281874759
SNP Nexus

SNPshotrs281874759
SNPdbers281874759
MSV3drs281874759
GWAS Ctlgrs281874759
Max Magnitude0
ClinVar
Risk rs281874759(;)
Alt rs281874759(;)
Reference rs281874759(GC;GC)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107821183_107821184delGC
CLNSRC ClinVar
CLNACC RCV000021180.1,


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