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rs281874756

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281874756(A;G)
Make rs281874756(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108575908
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874756
ebirs281874756
HLIrs281874756
Exacrs281874756
Varsomers281874756
Maprs281874756
PheGenIrs281874756
hapmaprs281874756
1000 genomesrs281874756
hgdprs281874756
ensemblrs281874756
gopubmedrs281874756
geneviewrs281874756
scholarrs281874756
googlers281874756
pharmgkbrs281874756
gwascentralrs281874756
openSNPrs281874756
23andMers281874756
23andMe allrs281874756
SNP Nexus

SNPshotrs281874756
SNPdbers281874756
MSV3drs281874756
GWAS Ctlgrs281874756
Max Magnitude0
ClinVar
Risk rs281874756(G;G)
Alt rs281874756(G;G)
Reference rs281874756(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107819138A>G
CLNSRC ARUP COL4A5
CLNACC RCV000021164.1,


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