Have questions? Visit https://www.reddit.com/r/SNPedia

rs281874701

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GGGTATGATG;GGGTATGATG) 0 common in clinvar
(GTATGATGGG;GTATGATGGG) 0 common in clinvar
Make rs281874701(-;-)
Make rs281874701(-;GTATGATGGG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108621821
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874701
ebirs281874701
HLIrs281874701
Exacrs281874701
Varsomers281874701
Maprs281874701
PheGenIrs281874701
hapmaprs281874701
1000 genomesrs281874701
hgdprs281874701
ensemblrs281874701
gopubmedrs281874701
geneviewrs281874701
scholarrs281874701
googlers281874701
pharmgkbrs281874701
gwascentralrs281874701
openSNPrs281874701
23andMers281874701
23andMe allrs281874701
SNP Nexus

SNPshotrs281874701
SNPdbers281874701
MSV3drs281874701
GWAS Ctlgrs281874701
Max Magnitude0
ClinVar
Risk rs281874701(;)
Alt rs281874701(;)
Reference rs281874701(GGGTATGATG;GGGTATGATG)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107865051_107865060delGTATGATGGG
CLNSRC ClinVar
CLNACC RCV000032071.1,


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