rs869025284

Orientation

minus

Stabilized

minus

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

Make rs869025284(C;T)

Make rs869025284(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

6

Position

104833122

Gene

HACE1

is a	snp
is	mentioned by
dbSNP	rs869025284
dbSNP (classic)	rs869025284
ClinGen	rs869025284
ebi	rs869025284
HLI	rs869025284
Exac	rs869025284
Gnomad	rs869025284
Varsome	rs869025284
LitVar	rs869025284
Map	rs869025284
PheGenI	rs869025284
Biobank	rs869025284
1000 genomes	rs869025284
hgdp	rs869025284
ensembl	rs869025284
geneview	rs869025284
scholar	rs869025284
google	rs869025284
pharmgkb	rs869025284
gwascentral	rs869025284
openSNP	rs869025284
23andMe	rs869025284
SNPshot	rs869025284
SNPdbe	rs869025284
MSV3d	rs869025284
GWAS Ctlg	rs869025284

Max Magnitude

0

ClinVar
Risk	rs869025284(T;T)
Alt	rs869025284(T;T)
Reference	Rs869025284(C;C)
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.105280997G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000207034.1,