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rs267606745

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606745(A;A)
Make rs267606745(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position227295044
GeneCOL4A3, PAPPA
is asnp
is mentioned by
dbSNPrs267606745
ebirs267606745
HLIrs267606745
Exacrs267606745
Varsomers267606745
Maprs267606745
PheGenIrs267606745
hapmaprs267606745
1000 genomesrs267606745
hgdprs267606745
ensemblrs267606745
gopubmedrs267606745
geneviewrs267606745
scholarrs267606745
googlers267606745
pharmgkbrs267606745
gwascentralrs267606745
openSNPrs267606745
23andMers267606745
23andMe allrs267606745
SNP Nexus

SNPshotrs267606745
SNPdbers267606745
MSV3drs267606745
GWAS Ctlgrs267606745
Max Magnitude0
ClinVar
Risk rs267606745(A;A)
Alt rs267606745(A;A)
Reference rs267606745(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A3 LOC654841
CLNDBN Alport syndrome, autosomal dominant
Reversed 0
HGVS NC_000002.11:g.228159760G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019044.27,