Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057518913

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518913(C;C)
Make rs1057518913(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position137762822
GeneEHMT1, EHMT1-IT1
is asnp
is mentioned by
dbSNPrs1057518913
dbSNP (old)rs1057518913
ClinGenrs1057518913
ebirs1057518913
HLIrs1057518913
Exacrs1057518913
Gnomadrs1057518913
Varsomers1057518913
LitVarrs1057518913
Maprs1057518913
PheGenIrs1057518913
Biobankrs1057518913
1000 genomesrs1057518913
hgdprs1057518913
ensemblrs1057518913
gopubmedrs1057518913
geneviewrs1057518913
scholarrs1057518913
googlers1057518913
pharmgkbrs1057518913
gwascentralrs1057518913
openSNPrs1057518913
23andMers1057518913
23andMe allrs1057518913
SNPshotrs1057518913
SNPdbers1057518913
MSV3drs1057518913
GWAS Ctlgrs1057518913
Max Magnitude0
ClinVar
Risk rs1057518913(C;C)
Alt rs1057518913(C;C)
Reference Rs1057518913(T;T)
Significance Probable-Pathogenic
Disease Anteverted nares Coarse facial features Global developmental delay Intellectual disability Schizophrenia Synophrys
Variation info
Gene EHMT1-IT1 EHMT1
CLNDBN Anteverted nares Coarse facial features Global developmental delay Intellectual disability Schizophrenia Synophrys
Reversed 0
HGVS NC_000009.11:g.140657274T>C
CLNSRC
CLNACC RCV000414996.1,