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rs281874671

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874671(A;A)
Make rs281874671(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597378
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874671
ebirs281874671
HLIrs281874671
Exacrs281874671
Varsomers281874671
Maprs281874671
PheGenIrs281874671
hapmaprs281874671
1000 genomesrs281874671
hgdprs281874671
ensemblrs281874671
gopubmedrs281874671
geneviewrs281874671
scholarrs281874671
googlers281874671
pharmgkbrs281874671
gwascentralrs281874671
openSNPrs281874671
23andMers281874671
23andMe allrs281874671
SNP Nexus

SNPshotrs281874671
SNPdbers281874671
MSV3drs281874671
GWAS Ctlgrs281874671
Max Magnitude0
ClinVar
Risk rs281874671(A;A)
Alt rs281874671(A;A)
Reference rs281874671(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840608G>A
CLNSRC ARUP COL4A5
CLNACC RCV000032058.1,


[PMID 21143337] Mutation detection of COL4An gene based on mRNA of peripheral blood lymphocytes and prenatal diagnosis of Alport syndrome in China.