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rs869312910

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312910(A;A)
Make rs869312910(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position15160896
GeneNOTCH3
is asnp
is mentioned by
dbSNPrs869312910
dbSNP (classic)rs869312910
ClinGenrs869312910
ebirs869312910
HLIrs869312910
Exacrs869312910
Gnomadrs869312910
Varsomers869312910
LitVarrs869312910
Maprs869312910
PheGenIrs869312910
Biobankrs869312910
1000 genomesrs869312910
hgdprs869312910
ensemblrs869312910
geneviewrs869312910
scholarrs869312910
googlers869312910
pharmgkbrs869312910
gwascentralrs869312910
openSNPrs869312910
23andMers869312910
SNPshotrs869312910
SNPdbers869312910
MSV3drs869312910
GWAS Ctlgrs869312910
Max Magnitude0
ClinVar
Risk rs869312910(A;A)
Alt rs869312910(A;A)
Reference Rs869312910(C;C)
Significance Pathogenic
Disease Lehman syndrome
Variation info
Gene NOTCH3
CLNDBN Lehman syndrome
Reversed 1
HGVS NC_000019.9:g.15271707G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000210475.3,