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rs869312973

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs869312973(-;GA)
Make rs869312973(GA;GA)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position8059829
GeneC3AR1
is asnp
is mentioned by
dbSNPrs869312973
dbSNP (classic)rs869312973
ClinGenrs869312973
ebirs869312973
HLIrs869312973
Exacrs869312973
Gnomadrs869312973
Varsomers869312973
LitVarrs869312973
Maprs869312973
PheGenIrs869312973
Biobankrs869312973
1000 genomesrs869312973
hgdprs869312973
ensemblrs869312973
geneviewrs869312973
scholarrs869312973
googlers869312973
pharmgkbrs869312973
gwascentralrs869312973
openSNPrs869312973
23andMers869312973
SNPshotrs869312973
SNPdbers869312973
MSV3drs869312973
GWAS Ctlgrs869312973
Max Magnitude0
ClinVar
Risk rs869312973(GA;GA)
Alt rs869312973(GA;GA)
Reference Rs869312973(-;-)
Significance Probable-Pathogenic
Disease Atypical hemolytic-uremic syndrome 1
Variation info
Gene C3AR1
CLNDBN Atypical hemolytic-uremic syndrome 1
Reversed 1
HGVS NC_000012.11:g.8212426_8212427dupTC
CLNSRC
CLNACC RCV000210740.1,