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rs762334954

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs762334954(-;T)
Make rs762334954(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position219568063
GeneOBSL1
is asnp
is mentioned by
dbSNPrs762334954
ClinGenrs762334954
ebirs762334954
HLIrs762334954
Exacrs762334954
Varsomers762334954
Maprs762334954
PheGenIrs762334954
hapmaprs762334954
1000 genomesrs762334954
hgdprs762334954
ensemblrs762334954
gopubmedrs762334954
geneviewrs762334954
scholarrs762334954
googlers762334954
pharmgkbrs762334954
gwascentralrs762334954
openSNPrs762334954
23andMers762334954
23andMe allrs762334954
SNP Nexus

SNPshotrs762334954
SNPdbers762334954
MSV3drs762334954
GWAS Ctlgrs762334954
Max Magnitude0
ClinVar
Risk rs762334954(T;T)
Alt rs762334954(T;T)
Reference Rs762334954(-;-)
Significance Pathogenic
Disease Three M syndrome 2
Variation info
Gene OBSL1
CLNDBN Three M syndrome 2
Reversed 0
HGVS NC_000002.11:g.220432786dupT
CLNSRC
CLNACC RCV000175869.3,