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rs281874699

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874699(C;C)
Make rs281874699(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108620408
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874699
ebirs281874699
HLIrs281874699
Exacrs281874699
Varsomers281874699
Maprs281874699
PheGenIrs281874699
hapmaprs281874699
1000 genomesrs281874699
hgdprs281874699
ensemblrs281874699
gopubmedrs281874699
geneviewrs281874699
scholarrs281874699
googlers281874699
pharmgkbrs281874699
gwascentralrs281874699
openSNPrs281874699
23andMers281874699
23andMe allrs281874699
SNP Nexus

SNPshotrs281874699
SNPdbers281874699
MSV3drs281874699
GWAS Ctlgrs281874699
Max Magnitude0
ClinVar
Risk rs281874699(C;C)
Alt rs281874699(C;C)
Reference rs281874699(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107863638G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021427.1,


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