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rs1057518716

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518716(-;-)
Make rs1057518716(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position219563561
GeneOBSL1
is asnp
is mentioned by
dbSNPrs1057518716
dbSNP (old)rs1057518716
ClinGenrs1057518716
ebirs1057518716
HLIrs1057518716
Exacrs1057518716
Gnomadrs1057518716
Varsomers1057518716
Maprs1057518716
PheGenIrs1057518716
Biobankrs1057518716
1000 genomesrs1057518716
hgdprs1057518716
ensemblrs1057518716
gopubmedrs1057518716
geneviewrs1057518716
scholarrs1057518716
googlers1057518716
pharmgkbrs1057518716
gwascentralrs1057518716
openSNPrs1057518716
23andMers1057518716
23andMe allrs1057518716
SNPshotrs1057518716
SNPdbers1057518716
MSV3drs1057518716
GWAS Ctlgrs1057518716
Max Magnitude0
ClinVar
Risk rs1057518716(-;-)
Alt rs1057518716(-;-)
Reference Rs1057518716(T;T)
Significance Pathogenic
Disease Three M syndrome 2
Variation info
Gene OBSL1
CLNDBN Three M syndrome 2
Reversed 1
HGVS NC_000002.11:g.220428283delA
CLNSRC
CLNACC RCV000415144.1,