rs1057518849

Orientation

plus

Stabilized

plus

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

Make rs1057518849(A;A)

Make rs1057518849(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

137800985

Gene

EHMT1

is a	snp
is	mentioned by
dbSNP	rs1057518849
dbSNP (classic)	rs1057518849
ClinGen	rs1057518849
ebi	rs1057518849
HLI	rs1057518849
Exac	rs1057518849
Gnomad	rs1057518849
Varsome	rs1057518849
LitVar	rs1057518849
Map	rs1057518849
PheGenI	rs1057518849
Biobank	rs1057518849
1000 genomes	rs1057518849
hgdp	rs1057518849
ensembl	rs1057518849
geneview	rs1057518849
scholar	rs1057518849
google	rs1057518849
pharmgkb	rs1057518849
gwascentral	rs1057518849
openSNP	rs1057518849
23andMe	rs1057518849
SNPshot	rs1057518849
SNPdbe	rs1057518849
MSV3d	rs1057518849
GWAS Ctlg	rs1057518849

Max Magnitude

0

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,