rs587777783

Orientation

plus

Stabilized

plus

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

Make rs587777783(-;-)

Make rs587777783(-;CACTC)

Reference

GRCh38 38.1/142

Chromosome

12

Position

120440444

Gene

COX6A1

is a	snp
is	mentioned by
dbSNP	rs587777783
dbSNP (classic)	rs587777783
ClinGen	rs587777783
ebi	rs587777783
HLI	rs587777783
Exac	rs587777783
Gnomad	rs587777783
Varsome	rs587777783
LitVar	rs587777783
Map	rs587777783
PheGenI	rs587777783
Biobank	rs587777783
1000 genomes	rs587777783
hgdp	rs587777783
ensembl	rs587777783
geneview	rs587777783
scholar	rs587777783
google	rs587777783
pharmgkb	rs587777783
gwascentral	rs587777783
openSNP	rs587777783
23andMe	rs587777783
SNPshot	rs587777783
SNPdbe	rs587777783
MSV3d	rs587777783
GWAS Ctlg	rs587777783

Max Magnitude

0

ClinVar
Risk	rs587777783(-;-)
Alt	rs587777783(-;-)
Reference	Rs587777783(CACTC;CACTC)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	COX6A1
CLNDBN	Charcot-Marie-Tooth disease, recessive intermediate d
Reversed	0
HGVS	NC_000012.11:g.120878247_120878251delCACTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000144453.3,