Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057518705

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518705(A;C)
Make rs1057518705(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position115982605
GeneMED13L
is asnp
is mentioned by
dbSNPrs1057518705
dbSNP (old)rs1057518705
ClinGenrs1057518705
ebirs1057518705
HLIrs1057518705
Exacrs1057518705
Gnomadrs1057518705
Varsomers1057518705
Maprs1057518705
PheGenIrs1057518705
Biobankrs1057518705
1000 genomesrs1057518705
hgdprs1057518705
ensemblrs1057518705
gopubmedrs1057518705
geneviewrs1057518705
scholarrs1057518705
googlers1057518705
pharmgkbrs1057518705
gwascentralrs1057518705
openSNPrs1057518705
23andMers1057518705
23andMe allrs1057518705
SNPshotrs1057518705
SNPdbers1057518705
MSV3drs1057518705
GWAS Ctlgrs1057518705
Max Magnitude0
ClinVar
Risk rs1057518705(C;C)
Alt rs1057518705(C;C)
Reference Rs1057518705(A;A)
Significance Pathogenic
Disease Mental retardation and distinctive facial features with or without cardiac defects
Variation info
Gene MED13L
CLNDBN Mental retardation and distinctive facial features with or without cardiac defects
Reversed 1
HGVS NC_000012.11:g.116420410T>G
CLNSRC
CLNACC RCV000415412.1,