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rs281874664

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874664(A;A)
Make rs281874664(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591186
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874664
ebirs281874664
HLIrs281874664
Exacrs281874664
Varsomers281874664
Maprs281874664
PheGenIrs281874664
hapmaprs281874664
1000 genomesrs281874664
hgdprs281874664
ensemblrs281874664
gopubmedrs281874664
geneviewrs281874664
scholarrs281874664
googlers281874664
pharmgkbrs281874664
gwascentralrs281874664
openSNPrs281874664
23andMers281874664
23andMe allrs281874664
SNP Nexus

SNPshotrs281874664
SNPdbers281874664
MSV3drs281874664
GWAS Ctlgrs281874664
Max Magnitude0
ClinVar
Risk rs281874664(A;A)
Alt rs281874664(A;A)
Reference rs281874664(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834416G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021276.1,


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