rs751809418

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(I;I)	0	common genotype
(TG;TG)	0	common in clinvar

Make rs751809418(-;-)

Make rs751809418(-;TG)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

104776752

Gene

HACE1

is a	snp
is	mentioned by
dbSNP	rs751809418
dbSNP (classic)	rs751809418
ClinGen	rs751809418
ebi	rs751809418
HLI	rs751809418
Exac	rs751809418
Gnomad	rs751809418
Varsome	rs751809418
LitVar	rs751809418
Map	rs751809418
PheGenI	rs751809418
Biobank	rs751809418
1000 genomes	rs751809418
hgdp	rs751809418
ensembl	rs751809418
geneview	rs751809418
scholar	rs751809418
google	rs751809418
pharmgkb	rs751809418
gwascentral	rs751809418
openSNP	rs751809418
23andMe	rs751809418
SNPshot	rs751809418
SNPdbe	rs751809418
MSV3d	rs751809418
GWAS Ctlg	rs751809418

Max Magnitude

0

ClinVar
Risk	rs751809418(-;-)
Alt	rs751809418(-;-)
Reference	Rs751809418(TG;TG)
Significance	Pathogenic
Disease	Spastic paraplegia and psychomotor retardation with or without seizures
Variation	info
Gene	HACE1
CLNDBN	Spastic paraplegia and psychomotor retardation with or without seizures
Reversed	0
HGVS	NC_000006.11:g.105224627_105224628delTG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000207222.1,