rs104894813

Orientation

plus

Stabilized

plus

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

Make rs104894813(C;C)

Make rs104894813(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

71224104

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs104894813
dbSNP (classic)	rs104894813
ClinGen	rs104894813
ebi	rs104894813
HLI	rs104894813
Exac	rs104894813
Gnomad	rs104894813
Varsome	rs104894813
LitVar	rs104894813
Map	rs104894813
PheGenI	rs104894813
Biobank	rs104894813
1000 genomes	rs104894813
hgdp	rs104894813
ensembl	rs104894813
geneview	rs104894813
scholar	rs104894813
google	rs104894813
pharmgkb	rs104894813
gwascentral	rs104894813
openSNP	rs104894813
23andMe	rs104894813
SNPshot	rs104894813
SNPdbe	rs104894813
MSV3d	rs104894813
GWAS Ctlg	rs104894813

Max Magnitude

0

OMIM	304040
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894813(C;C)
Alt	rs104894813(C;C)
Reference	Rs104894813(T;T)
Significance	Pathogenic
Disease	X-linked hereditary motor and sensory neuropathy
Variation	info
Gene	GJB1
CLNDBN	X-linked hereditary motor and sensory neuropathy
Reversed	0
HGVS	NC_000023.10:g.70443954T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011179.2,