rs587777879

Orientation

plus

Stabilized

plus

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

Make rs587777879(C;T)

Make rs587777879(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

71224497

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs587777879
dbSNP (classic)	rs587777879
ClinGen	rs587777879
ebi	rs587777879
HLI	rs587777879
Exac	rs587777879
Gnomad	rs587777879
Varsome	rs587777879
LitVar	rs587777879
Map	rs587777879
PheGenI	rs587777879
Biobank	rs587777879
1000 genomes	rs587777879
hgdp	rs587777879
ensembl	rs587777879
geneview	rs587777879
scholar	rs587777879
google	rs587777879
pharmgkb	rs587777879
gwascentral	rs587777879
openSNP	rs587777879
23andMe	rs587777879
SNPshot	rs587777879
SNPdbe	rs587777879
MSV3d	rs587777879
GWAS Ctlg	rs587777879

Max Magnitude

0

ClinVar
Risk	rs587777879(T;T)
Alt	rs587777879(T;T)
Reference	Rs587777879(C;C)
Significance	Pathogenic
Disease	X-linked hereditary motor and sensory neuropathy
Variation	info
Gene	GJB1
CLNDBN	X-linked hereditary motor and sensory neuropathy
Reversed	0
HGVS	NC_000023.10:g.70444347C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000143796.1,