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rs1057518717

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518717(C;T)
Make rs1057518717(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position219557454
GeneOBSL1
is asnp
is mentioned by
dbSNPrs1057518717
dbSNP (old)rs1057518717
ClinGenrs1057518717
ebirs1057518717
HLIrs1057518717
Exacrs1057518717
Gnomadrs1057518717
Varsomers1057518717
Maprs1057518717
PheGenIrs1057518717
Biobankrs1057518717
1000 genomesrs1057518717
hgdprs1057518717
ensemblrs1057518717
gopubmedrs1057518717
geneviewrs1057518717
scholarrs1057518717
googlers1057518717
pharmgkbrs1057518717
gwascentralrs1057518717
openSNPrs1057518717
23andMers1057518717
23andMe allrs1057518717
SNPshotrs1057518717
SNPdbers1057518717
MSV3drs1057518717
GWAS Ctlgrs1057518717
Max Magnitude0
ClinVar
Risk rs1057518717(T;T)
Alt rs1057518717(T;T)
Reference Rs1057518717(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.220422176G>A
CLNSRC
CLNACC RCV000415461.1,