rs797044964

Orientation

plus

Stabilized

plus

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

Make rs797044964(C;C)

Make rs797044964(C;G)

Reference

GRCh38.p2 38.2/146

Chromosome

10

Position

69278691

Gene

HK1

is a	snp
is	mentioned by
dbSNP	rs797044964
dbSNP (classic)	rs797044964
ClinGen	rs797044964
ebi	rs797044964
HLI	rs797044964
Exac	rs797044964
Gnomad	rs797044964
Varsome	rs797044964
LitVar	rs797044964
Map	rs797044964
PheGenI	rs797044964
Biobank	rs797044964
1000 genomes	rs797044964
hgdp	rs797044964
ensembl	rs797044964
geneview	rs797044964
scholar	rs797044964
google	rs797044964
pharmgkb	rs797044964
gwascentral	rs797044964
openSNP	rs797044964
23andMe	rs797044964
SNPshot	rs797044964
SNPdbe	rs797044964
MSV3d	rs797044964
GWAS Ctlg	rs797044964

Max Magnitude

0

Non-coding variant assessed as part of Blueprint Genetics Retinal dystrophy (266 gene) panel.

ClinVar
Risk	rs797044964(C;C)
Alt	rs797044964(C;C)
Reference	Rs797044964(G;G)
Significance	Pathogenic
Disease	Neuropathy
Variation	info
Gene	HK1
CLNDBN	Neuropathy, hereditary motor and sensory, russe type
Reversed	0
HGVS	NC_000010.10:g.71038447G>C
CLNSRC
CLNACC	RCV000194396.1,