rs864622215

Orientation

plus

Stabilized

plus

Make rs864622215(C;C)

Make rs864622215(C;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

71224351

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs864622215
dbSNP (classic)	rs864622215
ClinGen	rs864622215
ebi	rs864622215
HLI	rs864622215
Exac	rs864622215
Gnomad	rs864622215
Varsome	rs864622215
LitVar	rs864622215
Map	rs864622215
PheGenI	rs864622215
Biobank	rs864622215
1000 genomes	rs864622215
hgdp	rs864622215
ensembl	rs864622215
geneview	rs864622215
scholar	rs864622215
google	rs864622215
pharmgkb	rs864622215
gwascentral	rs864622215
openSNP	rs864622215
23andMe	rs864622215
SNPshot	rs864622215
SNPdbe	rs864622215
MSV3d	rs864622215
GWAS Ctlg	rs864622215

Max Magnitude

0

ClinVar
Risk	rs864622215(C;C)
Alt	rs864622215(C;C)
Reference	Rs864622215(G;G)
Significance	Probable-Pathogenic
Disease	Charcot-Marie-Tooth Neuropathy X not provided
Variation	info
Gene	GJB1
CLNDBN	Charcot-Marie-Tooth Neuropathy X not provided
Reversed	0
HGVS	NC_000023.10:g.70444201G>C
CLNSRC
CLNACC	RCV000205076.2, RCV000236627.1,