rs587779388

Orientation

minus

Stabilized

minus

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

Make rs587779388(-;-)

Make rs587779388(-;CA)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

113898755

Gene	AP4B1, AP4B1-AS1

is a	snp
is	mentioned by
dbSNP	rs587779388
dbSNP (classic)	rs587779388
ClinGen	rs587779388
ebi	rs587779388
HLI	rs587779388
Exac	rs587779388
Gnomad	rs587779388
Varsome	rs587779388
LitVar	rs587779388
Map	rs587779388
PheGenI	rs587779388
Biobank	rs587779388
1000 genomes	rs587779388
hgdp	rs587779388
ensembl	rs587779388
geneview	rs587779388
scholar	rs587779388
google	rs587779388
pharmgkb	rs587779388
gwascentral	rs587779388
openSNP	rs587779388
23andMe	rs587779388
SNPshot	rs587779388
SNPdbe	rs587779388
MSV3d	rs587779388
GWAS Ctlg	rs587779388

Max Magnitude

0

ClinVar
Risk	rs587779388(-;-)
Alt	rs587779388(-;-)
Reference	Rs587779388(CA;CA)
Significance	Pathogenic
Disease	Spastic paraplegia 47
Variation	info
Gene	AP4B1 AP4B1-AS1
CLNDBN	Spastic paraplegia 47, autosomal recessive
Reversed	1
HGVS	NC_000001.10:g.114441377_114441378delTG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000144484.2,