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rs281874758

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281874758(A;G)
Make rs281874758(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108577950
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874758
ebirs281874758
HLIrs281874758
Exacrs281874758
Varsomers281874758
Maprs281874758
PheGenIrs281874758
hapmaprs281874758
1000 genomesrs281874758
hgdprs281874758
ensemblrs281874758
gopubmedrs281874758
geneviewrs281874758
scholarrs281874758
googlers281874758
pharmgkbrs281874758
gwascentralrs281874758
openSNPrs281874758
23andMers281874758
23andMe allrs281874758
SNP Nexus

SNPshotrs281874758
SNPdbers281874758
MSV3drs281874758
GWAS Ctlgrs281874758
Max Magnitude0
ClinVar
Risk rs281874758(G;G)
Alt rs281874758(G;G)
Reference rs281874758(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107821180A>G
CLNSRC ARUP COL4A5
CLNACC RCV000021176.1,


[PMID 17660027] Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.