rs764365793

Merged into

rs606231128

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(;)	0	common in clinvar
(-;-)	0	common/normal

Make rs764365793(-;GCCT)

Make rs764365793(GCCT;GCCT)

Reference

GRCh38.p2 38.2/146

Chromosome

4

Position

3493106

Gene

DOK7

is a	snp
is	mentioned by
dbSNP	rs764365793
dbSNP (classic)	rs764365793
ClinGen	rs764365793
ebi	rs764365793
HLI	rs764365793
Exac	rs764365793
Gnomad	rs764365793
Varsome	rs764365793
LitVar	rs764365793
Map	rs764365793
PheGenI	rs764365793
Biobank	rs764365793
1000 genomes	rs764365793
hgdp	rs764365793
ensembl	rs764365793
geneview	rs764365793
scholar	rs764365793
google	rs764365793
pharmgkb	rs764365793
gwascentral	rs764365793
openSNP	rs764365793
23andMe	rs764365793
SNPshot	rs764365793
SNPdbe	rs764365793
MSV3d	rs764365793
GWAS Ctlg	rs764365793

Status

Merged into rs606231128

Max Magnitude

0

ClinVar
Risk	rs764365793(GCCT;GCCT)
Alt	rs764365793(GCCT;GCCT)
Reference	Rs764365793(;)
Significance	Pathogenic
Disease	Myasthenia not provided Congenital myasthenic syndrome
Variation	info
Gene	DOK7
CLNDBN	Myasthenia, limb-girdle, familial not provided Congenital myasthenic syndrome
Reversed	0
HGVS	NC_000004.11:g.3494837_3494840dupTGCC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001335.5, RCV000202989.1, RCV000235027.1,