rs587781246

Orientation

plus

Stabilized

plus

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

Make rs587781246(C;T)

Make rs587781246(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

71224395

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs587781246
dbSNP (classic)	rs587781246
ClinGen	rs587781246
ebi	rs587781246
HLI	rs587781246
Exac	rs587781246
Gnomad	rs587781246
Varsome	rs587781246
LitVar	rs587781246
Map	rs587781246
PheGenI	rs587781246
Biobank	rs587781246
1000 genomes	rs587781246
hgdp	rs587781246
ensembl	rs587781246
geneview	rs587781246
scholar	rs587781246
google	rs587781246
pharmgkb	rs587781246
gwascentral	rs587781246
openSNP	rs587781246
23andMe	rs587781246
SNPshot	rs587781246
SNPdbe	rs587781246
MSV3d	rs587781246
GWAS Ctlg	rs587781246

Max Magnitude

0

ClinVar
Risk	rs587781246(T;T)
Alt	rs587781246(T;T)
Reference	Rs587781246(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease not specified
Variation	info
Gene	GJB1
CLNDBN	Charcot-Marie-Tooth disease not specified
Reversed	0
HGVS	NC_000023.10:g.70444245C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000144863.1, RCV000213596.2,