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rs281874675

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874675(A;A)
Make rs281874675(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597515
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874675
ebirs281874675
HLIrs281874675
Exacrs281874675
Varsomers281874675
Maprs281874675
PheGenIrs281874675
hapmaprs281874675
1000 genomesrs281874675
hgdprs281874675
ensemblrs281874675
gopubmedrs281874675
geneviewrs281874675
scholarrs281874675
googlers281874675
pharmgkbrs281874675
gwascentralrs281874675
openSNPrs281874675
23andMers281874675
23andMe allrs281874675
SNP Nexus

SNPshotrs281874675
SNPdbers281874675
MSV3drs281874675
GWAS Ctlgrs281874675
Max Magnitude0
ClinVar
Risk rs281874675(A;A)
Alt rs281874675(A;A)
Reference rs281874675(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840745G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021318.1,


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