rs1057518913

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs1057518913(C;C)

Make rs1057518913(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

137762822

Gene	EHMT1, EHMT1-IT1

is a	snp
is	mentioned by
dbSNP	rs1057518913
dbSNP (classic)	rs1057518913
ClinGen	rs1057518913
ebi	rs1057518913
HLI	rs1057518913
Exac	rs1057518913
Gnomad	rs1057518913
Varsome	rs1057518913
LitVar	rs1057518913
Map	rs1057518913
PheGenI	rs1057518913
Biobank	rs1057518913
1000 genomes	rs1057518913
hgdp	rs1057518913
ensembl	rs1057518913
geneview	rs1057518913
scholar	rs1057518913
google	rs1057518913
pharmgkb	rs1057518913
gwascentral	rs1057518913
openSNP	rs1057518913
23andMe	rs1057518913
SNPshot	rs1057518913
SNPdbe	rs1057518913
MSV3d	rs1057518913
GWAS Ctlg	rs1057518913

Max Magnitude

0

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,