Have questions? Visit https://www.reddit.com/r/SNPedia

rs864622063

From SNPedia

Orientationminus
Make rs864622063(-;-)
Make rs864622063(-;TC)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position136499144
GeneNOTCH1
is asnp
is mentioned by
dbSNPrs864622063
ebirs864622063
HLIrs864622063
Exacrs864622063
Varsomers864622063
Maprs864622063
PheGenIrs864622063
hapmaprs864622063
1000 genomesrs864622063
hgdprs864622063
ensemblrs864622063
gopubmedrs864622063
geneviewrs864622063
scholarrs864622063
googlers864622063
pharmgkbrs864622063
gwascentralrs864622063
openSNPrs864622063
23andMers864622063
23andMe allrs864622063
SNP Nexus

SNPshotrs864622063
SNPdbers864622063
MSV3drs864622063
GWAS Ctlgrs864622063
Max Magnitude
ClinVar
Risk rs864622063(;)
Alt rs864622063(;)
Reference rs864622063(TC;TC)
Significance Pathogenic
Disease Adams-Oliver syndrome 5
Variation info
Gene NOTCH1
CLNDBN Adams-Oliver syndrome 5
Reversed 1
HGVS NC_000009.11:g.139393596_139393597delGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000206353.1,