rs786205865

Orientation

minus

Stabilized

minus

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

Make rs786205865(C;C)

Make rs786205865(C;G)

Reference

GRCh38.p2 38.2/146

Chromosome

20

Position

63493155

Gene

EEF1A2

is a	snp
is	mentioned by
dbSNP	rs786205865
dbSNP (classic)	rs786205865
ClinGen	rs786205865
ebi	rs786205865
HLI	rs786205865
Exac	rs786205865
Gnomad	rs786205865
Varsome	rs786205865
LitVar	rs786205865
Map	rs786205865
PheGenI	rs786205865
Biobank	rs786205865
1000 genomes	rs786205865
hgdp	rs786205865
ensembl	rs786205865
geneview	rs786205865
scholar	rs786205865
google	rs786205865
pharmgkb	rs786205865
gwascentral	rs786205865
openSNP	rs786205865
23andMe	rs786205865
SNPshot	rs786205865
SNPdbe	rs786205865
MSV3d	rs786205865
GWAS Ctlg	rs786205865

Max Magnitude

0

ClinVar
Risk	rs786205865(C;C)
Alt	rs786205865(C;C)
Reference	Rs786205865(G;G)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	EEF1A2
CLNDBN	Mental retardation, autosomal dominant 38
Reversed	1
HGVS	NC_000020.10:g.62124508C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000172839.2,