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rs1057518921

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518921(A;A)
Make rs1057518921(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position71132465
GeneMED12
is asnp
is mentioned by
dbSNPrs1057518921
dbSNP (old)rs1057518921
ClinGenrs1057518921
ebirs1057518921
HLIrs1057518921
Exacrs1057518921
Gnomadrs1057518921
Varsomers1057518921
Maprs1057518921
PheGenIrs1057518921
Biobankrs1057518921
1000 genomesrs1057518921
hgdprs1057518921
ensemblrs1057518921
gopubmedrs1057518921
geneviewrs1057518921
scholarrs1057518921
googlers1057518921
pharmgkbrs1057518921
gwascentralrs1057518921
openSNPrs1057518921
23andMers1057518921
23andMe allrs1057518921
SNPshotrs1057518921
SNPdbers1057518921
MSV3drs1057518921
GWAS Ctlgrs1057518921
Max Magnitude0
ClinVar
Risk rs1057518921(A;A)
Alt rs1057518921(A;A)
Reference Rs1057518921(G;G)
Significance Probable-Pathogenic
Disease Abnormal facial shape Absent speech Expressive language delay Global developmental delay Microcephaly Seizures Ventriculomegaly
Variation info
Gene MED12
CLNDBN Abnormal facial shape Absent speech Expressive language delay Global developmental delay Microcephaly Seizures Ventriculomegaly
Reversed 0
HGVS NC_000023.10:g.70352315G>A
CLNSRC
CLNACC RCV000415054.1,