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rs281874684

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874684(C;C)
Make rs281874684(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108601449
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874684
ebirs281874684
HLIrs281874684
Exacrs281874684
Varsomers281874684
Maprs281874684
PheGenIrs281874684
hapmaprs281874684
1000 genomesrs281874684
hgdprs281874684
ensemblrs281874684
gopubmedrs281874684
geneviewrs281874684
scholarrs281874684
googlers281874684
pharmgkbrs281874684
gwascentralrs281874684
openSNPrs281874684
23andMers281874684
23andMe allrs281874684
SNP Nexus

SNPshotrs281874684
SNPdbers281874684
MSV3drs281874684
GWAS Ctlgrs281874684
Max Magnitude0
ClinVar
Risk rs281874684(C;C)
Alt rs281874684(C;C)
Reference rs281874684(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107844679G>C
CLNSRC ClinVar
CLNACC RCV000021350.1,


[PMID 15780079] Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.