rs869025283

Orientation

minus

Stabilized

minus

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

Make rs869025283(-;-)

Make rs869025283(-;TCT)

Reference

GRCh38.p2 38.2/147

Chromosome

6

Position

104744181

Gene

HACE1

is a	snp
is	mentioned by
dbSNP	rs869025283
dbSNP (classic)	rs869025283
ClinGen	rs869025283
ebi	rs869025283
HLI	rs869025283
Exac	rs869025283
Gnomad	rs869025283
Varsome	rs869025283
LitVar	rs869025283
Map	rs869025283
PheGenI	rs869025283
Biobank	rs869025283
1000 genomes	rs869025283
hgdp	rs869025283
ensembl	rs869025283
geneview	rs869025283
scholar	rs869025283
google	rs869025283
pharmgkb	rs869025283
gwascentral	rs869025283
openSNP	rs869025283
23andMe	rs869025283
SNPshot	rs869025283
SNPdbe	rs869025283
MSV3d	rs869025283
GWAS Ctlg	rs869025283

Max Magnitude

0

ClinVar
Risk	rs869025283(-;-)
Alt	rs869025283(-;-)
Reference	Rs869025283(TCT;TCT)
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	1
HGVS	NC_000006.11:g.105192056_105192058delAGA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000207174.1,