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rs879255527

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs879255527(-;C)
Make rs879255527(C;C)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position71137797
GeneMED12
is asnp
is mentioned by
dbSNPrs879255527
dbSNP (classic)rs879255527
ClinGenrs879255527
ebirs879255527
HLIrs879255527
Exacrs879255527
Gnomadrs879255527
Varsomers879255527
LitVarrs879255527
Maprs879255527
PheGenIrs879255527
Biobankrs879255527
1000 genomesrs879255527
hgdprs879255527
ensemblrs879255527
geneviewrs879255527
scholarrs879255527
googlers879255527
pharmgkbrs879255527
gwascentralrs879255527
openSNPrs879255527
23andMers879255527
SNPshotrs879255527
SNPdbers879255527
MSV3drs879255527
GWAS Ctlgrs879255527
Max Magnitude0
ClinVar
Risk rs879255527(C;C)
Alt rs879255527(C;C)
Reference Rs879255527(-;-)
Significance Pathogenic
Disease FG syndrome
Variation info
Gene MED12
CLNDBN FG syndrome
Reversed 0
HGVS NC_000023.10:g.70357647dupC
CLNSRC
CLNACC RCV000239399.1,