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rs765417606

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs765417606(A;G)
Make rs765417606(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position71124263
GeneMED12
is asnp
is mentioned by
dbSNPrs765417606
dbSNP (classic)rs765417606
ClinGenrs765417606
ebirs765417606
HLIrs765417606
Exacrs765417606
Gnomadrs765417606
Varsomers765417606
LitVarrs765417606
Maprs765417606
PheGenIrs765417606
Biobankrs765417606
1000 genomesrs765417606
hgdprs765417606
ensemblrs765417606
geneviewrs765417606
scholarrs765417606
googlers765417606
pharmgkbrs765417606
gwascentralrs765417606
openSNPrs765417606
23andMers765417606
SNPshotrs765417606
SNPdbers765417606
MSV3drs765417606
GWAS Ctlgrs765417606
Max Magnitude0
ClinVar
Risk rs765417606(G;G)
Alt rs765417606(G;G)
Reference Rs765417606(A;A)
Significance Probable-Pathogenic
Disease not specified FG syndrome Ohdo syndrome X-linked mental retardation with marfanoid habitus syndrome not provided
Variation info
Gene MED12
CLNDBN not specified FG syndrome Ohdo syndrome, X-linked X-linked mental retardation with marfanoid habitus syndrome not provided
Reversed 0
HGVS NC_000023.10:g.70344113A>G
CLNSRC
CLNACC RCV000196612.2, RCV000199251.1, RCV000224083.1,