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rs121918216

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918216(C;T)
Make rs121918216(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position219567787
GeneOBSL1
is asnp
is mentioned by
dbSNPrs121918216
ebirs121918216
HLIrs121918216
Exacrs121918216
Varsomers121918216
Maprs121918216
PheGenIrs121918216
hapmaprs121918216
1000 genomesrs121918216
hgdprs121918216
ensemblrs121918216
gopubmedrs121918216
geneviewrs121918216
scholarrs121918216
googlers121918216
pharmgkbrs121918216
gwascentralrs121918216
openSNPrs121918216
23andMers121918216
23andMe allrs121918216
SNP Nexus

SNPshotrs121918216
SNPdbers121918216
MSV3drs121918216
GWAS Ctlgrs121918216
Max Magnitude0
OMIM610991
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918216(T;T)
Alt rs121918216(T;T)
Reference rs121918216(C;C)
Significance Pathogenic
Disease Three M syndrome 2
Variation info
Gene OBSL1
CLNDBN Three M syndrome 2
Reversed 1
HGVS NC_000002.11:g.220432509G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001104.3,