rs104894824

Orientation

plus

Stabilized

plus

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

Make rs104894824(C;T)

Make rs104894824(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

71223871

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs104894824
dbSNP (classic)	rs104894824
ClinGen	rs104894824
ebi	rs104894824
HLI	rs104894824
Exac	rs104894824
Gnomad	rs104894824
Varsome	rs104894824
LitVar	rs104894824
Map	rs104894824
PheGenI	rs104894824
Biobank	rs104894824
1000 genomes	rs104894824
hgdp	rs104894824
ensembl	rs104894824
geneview	rs104894824
scholar	rs104894824
google	rs104894824
pharmgkb	rs104894824
gwascentral	rs104894824
openSNP	rs104894824
23andMe	rs104894824
SNPshot	rs104894824
SNPdbe	rs104894824
MSV3d	rs104894824
GWAS Ctlg	rs104894824

Max Magnitude

0

OMIM	304040
Desc
Variant	0016
Related	also

ClinVar
Risk	rs104894824(T;T)
Alt	rs104894824(T;T)
Reference	Rs104894824(C;C)
Significance	Pathogenic
Disease	X-linked hereditary motor and sensory neuropathy not provided
Variation	info
Gene	GJB1
CLNDBN	X-linked hereditary motor and sensory neuropathy not provided
Reversed	0
HGVS	NC_000023.10:g.70443721C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011191.2, RCV000486043.1,