rs104894810

Orientation

plus

Stabilized

plus

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

Make rs104894810(C;T)

Make rs104894810(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

71224131

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs104894810
dbSNP (classic)	rs104894810
ClinGen	rs104894810
ebi	rs104894810
HLI	rs104894810
Exac	rs104894810
Gnomad	rs104894810
Varsome	rs104894810
LitVar	rs104894810
Map	rs104894810
PheGenI	rs104894810
Biobank	rs104894810
1000 genomes	rs104894810
hgdp	rs104894810
ensembl	rs104894810
geneview	rs104894810
scholar	rs104894810
google	rs104894810
pharmgkb	rs104894810
gwascentral	rs104894810
openSNP	rs104894810
23andMe	rs104894810
SNPshot	rs104894810
SNPdbe	rs104894810
MSV3d	rs104894810
GWAS Ctlg	rs104894810

Max Magnitude

0

OMIM	304040
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894810(T;T)
Alt	rs104894810(T;T)
Reference	Rs104894810(C;C)
Significance	Pathogenic
Disease	X-linked hereditary motor and sensory neuropathy not provided Charcot-Marie-Tooth Neuropathy X
Variation	info
Gene	GJB1
CLNDBN	X-linked hereditary motor and sensory neuropathy not provided Charcot-Marie-Tooth Neuropathy X
Reversed	0
HGVS	NC_000023.10:g.70443981C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011176.5, RCV000236641.1, RCV000474456.1,