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rs397515554

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515554(A;A)
Make rs397515554(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71127359
GeneMED12
is asnp
is mentioned by
dbSNPrs397515554
dbSNP (classic)rs397515554
ClinGenrs397515554
ebirs397515554
HLIrs397515554
Exacrs397515554
Gnomadrs397515554
Varsomers397515554
LitVarrs397515554
Maprs397515554
PheGenIrs397515554
Biobankrs397515554
1000 genomesrs397515554
hgdprs397515554
ensemblrs397515554
geneviewrs397515554
scholarrs397515554
googlers397515554
pharmgkbrs397515554
gwascentralrs397515554
openSNPrs397515554
23andMers397515554
SNPshotrs397515554
SNPdbers397515554
MSV3drs397515554
GWAS Ctlgrs397515554
Max Magnitude0
ClinVar
Risk rs397515554(A;A)
Alt rs397515554(A;A)
Reference Rs397515554(G;G)
Significance Pathogenic
Disease FG syndrome
Variation info
Gene MED12
CLNDBN FG syndrome
Reversed 0
HGVS NC_000023.10:g.70347209G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000055909.1,