rs1057518780

Orientation

plus

Stabilized

plus

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

Make rs1057518780(G;G)

Make rs1057518780(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

71224209

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs1057518780
dbSNP (classic)	rs1057518780
ClinGen	rs1057518780
ebi	rs1057518780
HLI	rs1057518780
Exac	rs1057518780
Gnomad	rs1057518780
Varsome	rs1057518780
LitVar	rs1057518780
Map	rs1057518780
PheGenI	rs1057518780
Biobank	rs1057518780
1000 genomes	rs1057518780
hgdp	rs1057518780
ensembl	rs1057518780
geneview	rs1057518780
scholar	rs1057518780
google	rs1057518780
pharmgkb	rs1057518780
gwascentral	rs1057518780
openSNP	rs1057518780
23andMe	rs1057518780
SNPshot	rs1057518780
SNPdbe	rs1057518780
MSV3d	rs1057518780
GWAS Ctlg	rs1057518780

Max Magnitude

0

ClinVar
Risk	rs1057518780(G;G)
Alt	rs1057518780(G;G)
Reference	Rs1057518780(T;T)
Significance	Probable-Pathogenic
Disease	Distal lower limb muscle weakness Hand muscle atrophy Peroneal muscle atrophy Pes cavus Decreased nerve conduction velocity Distal muscle weakness Hammertoe Sensory neuropathy
Variation	info
Gene	GJB1
CLNDBN	Distal lower limb muscle weakness Hand muscle atrophy Peroneal muscle atrophy Pes cavus Decreased nerve conduction velocity Distal muscle weakness Hammertoe Sensory neuropathy
Reversed	0
HGVS	NC_000023.10:g.70444059T>G
CLNSRC
CLNACC	RCV000414760.1, RCV000415205.1,