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

rs1057518849

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518849(A;A)
Make rs1057518849(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position137800985
GeneEHMT1
is asnp
is mentioned by
dbSNPrs1057518849
dbSNP (old)rs1057518849
ClinGenrs1057518849
ebirs1057518849
HLIrs1057518849
Exacrs1057518849
Gnomadrs1057518849
Varsomers1057518849
LitVarrs1057518849
Maprs1057518849
PheGenIrs1057518849
Biobankrs1057518849
1000 genomesrs1057518849
hgdprs1057518849
ensemblrs1057518849
gopubmedrs1057518849
geneviewrs1057518849
scholarrs1057518849
googlers1057518849
pharmgkbrs1057518849
gwascentralrs1057518849
openSNPrs1057518849
23andMers1057518849
23andMe allrs1057518849
SNPshotrs1057518849
SNPdbers1057518849
MSV3drs1057518849
GWAS Ctlgrs1057518849
Max Magnitude0
ClinVar
Risk rs1057518849(A;A) rs1057518849(C;C)
Alt rs1057518849(A;A) rs1057518849(C;C)
Reference Rs1057518849(G;G)
Significance Pathogenic
Disease Abnormal facial shape Difficulty walking Global developmental delay Polymicrogyria not provided
Variation info
Gene EHMT1
CLNDBN Abnormal facial shape Difficulty walking Global developmental delay Polymicrogyria not provided
Reversed 0
HGVS NC_000009.11:g.140695437G>A; NC_000009.11:g.140695437G>C
CLNSRC
CLNACC RCV000415193.1, RCV000480859.1,