rs797045244

Orientation

minus

Stabilized

minus

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

Make rs797045244(C;C)

Make rs797045244(C;TG)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

113902664

Gene	AP4B1, DCLRE1B

is a	snp
is	mentioned by
dbSNP	rs797045244
dbSNP (classic)	rs797045244
ClinGen	rs797045244
ebi	rs797045244
HLI	rs797045244
Exac	rs797045244
Gnomad	rs797045244
Varsome	rs797045244
LitVar	rs797045244
Map	rs797045244
PheGenI	rs797045244
Biobank	rs797045244
1000 genomes	rs797045244
hgdp	rs797045244
ensembl	rs797045244
geneview	rs797045244
scholar	rs797045244
google	rs797045244
pharmgkb	rs797045244
gwascentral	rs797045244
openSNP	rs797045244
23andMe	rs797045244
SNPshot	rs797045244
SNPdbe	rs797045244
MSV3d	rs797045244
GWAS Ctlg	rs797045244

Max Magnitude

0

ClinVar
Risk	rs797045244(C;C)
Alt	rs797045244(C;C)
Reference	Rs797045244(TG;TG)
Significance	Pathogenic
Disease	Spastic paraplegia 47
Variation	info
Gene	DCLRE1B AP4B1
CLNDBN	Spastic paraplegia 47, autosomal recessive
Reversed	1
HGVS	NC_000001.10:g.114445286_114445287delCAinsG
CLNSRC
CLNACC	RCV000195189.1,