rs104894814

Orientation

plus

Stabilized

plus

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

Make rs104894814(C;T)

Make rs104894814(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

71224365

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs104894814
dbSNP (classic)	rs104894814
ClinGen	rs104894814
ebi	rs104894814
HLI	rs104894814
Exac	rs104894814
Gnomad	rs104894814
Varsome	rs104894814
LitVar	rs104894814
Map	rs104894814
PheGenI	rs104894814
Biobank	rs104894814
1000 genomes	rs104894814
hgdp	rs104894814
ensembl	rs104894814
geneview	rs104894814
scholar	rs104894814
google	rs104894814
pharmgkb	rs104894814
gwascentral	rs104894814
openSNP	rs104894814
23andMe	rs104894814
SNPshot	rs104894814
SNPdbe	rs104894814
MSV3d	rs104894814
GWAS Ctlg	rs104894814

Max Magnitude

0

OMIM	304040
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894814(G;G) rs104894814(T;T)
Alt	rs104894814(G;G) rs104894814(T;T)
Reference	Rs104894814(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.70444215C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011180.6, RCV000236998.2, RCV000466155.1,