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rs1057519381

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519381(A;A)
Make rs1057519381(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position71124276
GeneMED12
is asnp
is mentioned by
dbSNPrs1057519381
dbSNP (old)rs1057519381
ClinGenrs1057519381
ebirs1057519381
HLIrs1057519381
Exacrs1057519381
Gnomadrs1057519381
Varsomers1057519381
Maprs1057519381
PheGenIrs1057519381
Biobankrs1057519381
1000 genomesrs1057519381
hgdprs1057519381
ensemblrs1057519381
gopubmedrs1057519381
geneviewrs1057519381
scholarrs1057519381
googlers1057519381
pharmgkbrs1057519381
gwascentralrs1057519381
openSNPrs1057519381
23andMers1057519381
23andMe allrs1057519381
SNPshotrs1057519381
SNPdbers1057519381
MSV3drs1057519381
GWAS Ctlgrs1057519381
Max Magnitude0
ClinVar
Risk rs1057519381(A;A)
Alt rs1057519381(A;A)
Reference Rs1057519381(G;G)
Significance Probable-Pathogenic
Disease FG syndrome
Variation info
Gene MED12
CLNDBN FG syndrome
Reversed 0
HGVS NC_000023.10:g.70344126G>A
CLNSRC
CLNACC RCV000416709.1,