rs606231130

Orientation

plus

Stabilized

plus

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

Make rs606231130(-;-)

Make rs606231130(-;TCCT)

Make rs606231130(TCCT;TCCT)

Reference

GRCh38.p2 38.2/144

Chromosome

4

Position

3485554

Gene

DOK7

is a	snp
is	mentioned by
dbSNP	rs606231130
dbSNP (classic)	rs606231130
ClinGen	rs606231130
ebi	rs606231130
HLI	rs606231130
Exac	rs606231130
Gnomad	rs606231130
Varsome	rs606231130
LitVar	rs606231130
Map	rs606231130
PheGenI	rs606231130
Biobank	rs606231130
1000 genomes	rs606231130
hgdp	rs606231130
ensembl	rs606231130
geneview	rs606231130
scholar	rs606231130
google	rs606231130
pharmgkb	rs606231130
gwascentral	rs606231130
openSNP	rs606231130
23andMe	rs606231130
SNPshot	rs606231130
SNPdbe	rs606231130
MSV3d	rs606231130
GWAS Ctlg	rs606231130

Max Magnitude

0

ClinVar
Risk	rs606231130(-;-)
Alt	rs606231130(-;-)
Reference	Rs606231130(CTTC;CTTC)
Significance	Pathogenic
Disease	Myasthenia
Variation	info
Gene	DOK7
CLNDBN	Myasthenia, limb-girdle, familial
Reversed	0
HGVS	NC_000004.11:g.3487281_3487284delTCCT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001337.4,