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rs281874730

From SNPedia

Merged intors281874729
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281874730(-;-)
Make rs281874730(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108681867
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874730
dbSNP (old)rs281874730
ClinGenrs281874730
ebirs281874730
HLIrs281874730
Exacrs281874730
Gnomadrs281874730
Varsomers281874730
Maprs281874730
PheGenIrs281874730
Biobankrs281874730
1000 genomesrs281874730
hgdprs281874730
ensemblrs281874730
gopubmedrs281874730
geneviewrs281874730
scholarrs281874730
googlers281874730
pharmgkbrs281874730
gwascentralrs281874730
openSNPrs281874730
23andMers281874730
23andMe allrs281874730
SNP Nexus

SNPshotrs281874730
SNPdbers281874730
MSV3drs281874730
GWAS Ctlgrs281874730
StatusMerged into rs281874729
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs281874730(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107925097delC
CLNSRC ClinVar
CLNACC RCV000021591.2,


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