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rs786205599

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205599(C;C)
Make rs786205599(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position136497486
GeneNOTCH1
is asnp
is mentioned by
dbSNPrs786205599
dbSNP (classic)rs786205599
ClinGenrs786205599
ebirs786205599
HLIrs786205599
Exacrs786205599
Gnomadrs786205599
Varsomers786205599
LitVarrs786205599
Maprs786205599
PheGenIrs786205599
Biobankrs786205599
1000 genomesrs786205599
hgdprs786205599
ensemblrs786205599
geneviewrs786205599
scholarrs786205599
googlers786205599
pharmgkbrs786205599
gwascentralrs786205599
openSNPrs786205599
23andMers786205599
SNPshotrs786205599
SNPdbers786205599
MSV3drs786205599
GWAS Ctlgrs786205599
Max Magnitude0
ClinVar
Risk rs786205599(C;C)
Alt rs786205599(C;C)
Reference Rs786205599(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene NOTCH1
CLNDBN not provided
Reversed 1
HGVS NC_000009.11:g.139391938C>G
CLNSRC
CLNACC RCV000171428.1,