rs116840823

Orientation

plus

Stabilized

plus

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

Make rs116840823(-;ACCGTCTTC)

Make rs116840823(ACCGTCTTC;ACCGTCTTC)

Reference

GRCh38 38.1/141

Chromosome

X

Position

71224286

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs116840823
dbSNP (classic)	rs116840823
ClinGen	rs116840823
ebi	rs116840823
HLI	rs116840823
Exac	rs116840823
Gnomad	rs116840823
Varsome	rs116840823
LitVar	rs116840823
Map	rs116840823
PheGenI	rs116840823
Biobank	rs116840823
1000 genomes	rs116840823
hgdp	rs116840823
ensembl	rs116840823
geneview	rs116840823
scholar	rs116840823
google	rs116840823
pharmgkb	rs116840823
gwascentral	rs116840823
openSNP	rs116840823
23andMe	rs116840823
SNPshot	rs116840823
SNPdbe	rs116840823
MSV3d	rs116840823
GWAS Ctlg	rs116840823

Max Magnitude

0

ClinVar
Risk	rs116840823(ACCGTCTTC;ACCGTCTTC)
Alt	rs116840823(ACCGTCTTC;ACCGTCTTC)
Reference	Rs116840823(-;-)
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.70444128_70444136dupACCGTCTTC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020177.1,