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rs281874765

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874765(C;C)
Make rs281874765(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108440207
GeneCOL4A5, COL4A6
is asnp
is mentioned by
dbSNPrs281874765
ebirs281874765
HLIrs281874765
Exacrs281874765
Varsomers281874765
Maprs281874765
PheGenIrs281874765
hapmaprs281874765
1000 genomesrs281874765
hgdprs281874765
ensemblrs281874765
gopubmedrs281874765
geneviewrs281874765
scholarrs281874765
googlers281874765
pharmgkbrs281874765
gwascentralrs281874765
openSNPrs281874765
23andMers281874765
23andMe allrs281874765
SNP Nexus

SNPshotrs281874765
SNPdbers281874765
MSV3drs281874765
GWAS Ctlgrs281874765
Max Magnitude0
ClinVar
Risk rs281874765(C;C)
Alt rs281874765(C;C)
Reference rs281874765(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5 COL4A6
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107683437G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021083.1,


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