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rs137939966

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137939966(A;G)
Make rs137939966(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position12752540
GeneMYOCD
is asnp
is mentioned by
dbSNPrs137939966
dbSNP (classic)rs137939966
ClinGenrs137939966
ebirs137939966
HLIrs137939966
Exacrs137939966
Gnomadrs137939966
Varsomers137939966
LitVarrs137939966
Maprs137939966
PheGenIrs137939966
Biobankrs137939966
1000 genomesrs137939966
hgdprs137939966
ensemblrs137939966
geneviewrs137939966
scholarrs137939966
googlers137939966
pharmgkbrs137939966
gwascentralrs137939966
openSNPrs137939966
23andMers137939966
SNPshotrs137939966
SNPdbers137939966
MSV3drs137939966
GWAS Ctlgrs137939966
Max Magnitude0
ClinVar
Risk rs137939966(G;G)
Alt rs137939966(G;G)
Reference Rs137939966(A;A)
Significance Probable-Pathogenic
Disease Intellectual disability Seizures
Variation info
Gene MYOCD
CLNDBN Intellectual disability Seizures
Reversed 0
HGVS NC_000017.10:g.12655857A>G
CLNSRC
CLNACC RCV000162186.1,