rs587777713

Orientation

plus

Stabilized

plus

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

Make rs587777713(C;C)

Make rs587777713(C;T)

Reference

GRCh38 38.1/142

Chromosome

6

Position

109691485

Gene

AK9, FIG4

is a	snp
is	mentioned by
dbSNP	rs587777713
dbSNP (classic)	rs587777713
ClinGen	rs587777713
ebi	rs587777713
HLI	rs587777713
Exac	rs587777713
Gnomad	rs587777713
Varsome	rs587777713
LitVar	rs587777713
Map	rs587777713
PheGenI	rs587777713
Biobank	rs587777713
1000 genomes	rs587777713
hgdp	rs587777713
ensembl	rs587777713
geneview	rs587777713
scholar	rs587777713
google	rs587777713
pharmgkb	rs587777713
gwascentral	rs587777713
openSNP	rs587777713
23andMe	rs587777713
SNPshot	rs587777713
SNPdbe	rs587777713
MSV3d	rs587777713
GWAS Ctlg	rs587777713

Max Magnitude

0

ClinVar
Risk	rs587777713(C;C)
Alt	rs587777713(C;C)
Reference	Rs587777713(T;T)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	AK9 FIG4
CLNDBN	Charcot-Marie-Tooth disease, type 4J
Reversed	0
HGVS	NC_000006.11:g.110012688T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000144071.5,