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rs121918215

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918215(A;A)
Make rs121918215(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position219568188
GeneOBSL1
is asnp
is mentioned by
dbSNPrs121918215
ebirs121918215
HLIrs121918215
Exacrs121918215
Varsomers121918215
Maprs121918215
PheGenIrs121918215
hapmaprs121918215
1000 genomesrs121918215
hgdprs121918215
ensemblrs121918215
gopubmedrs121918215
geneviewrs121918215
scholarrs121918215
googlers121918215
pharmgkbrs121918215
gwascentralrs121918215
openSNPrs121918215
23andMers121918215
23andMe allrs121918215
SNP Nexus

SNPshotrs121918215
SNPdbers121918215
MSV3drs121918215
GWAS Ctlgrs121918215
Max Magnitude0
OMIM610991
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918215(A;A)
Alt rs121918215(A;A)
Reference rs121918215(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.220432910G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001101.5,