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rs569681869

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs569681869(C;G)
Make rs569681869(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position227059468
GeneCOL4A4
is asnp
is mentioned by
dbSNPrs569681869
dbSNP (classic)rs569681869
ClinGenrs569681869
ebirs569681869
HLIrs569681869
Exacrs569681869
Gnomadrs569681869
Varsomers569681869
LitVarrs569681869
Maprs569681869
PheGenIrs569681869
Biobankrs569681869
1000 genomesrs569681869
hgdprs569681869
ensemblrs569681869
geneviewrs569681869
scholarrs569681869
googlers569681869
pharmgkbrs569681869
gwascentralrs569681869
openSNPrs569681869
23andMers569681869
SNPshotrs569681869
SNPdbers569681869
MSV3drs569681869
GWAS Ctlgrs569681869
Max Magnitude0
ClinVar
Risk rs569681869(G;G)
Alt rs569681869(G;G)
Reference Rs569681869(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A4
CLNDBN Alport syndrome, autosomal recessive
Reversed 0
HGVS NC_000002.11:g.227924184C>G
CLNSRC
CLNACC RCV000207535.1,