rs587783179

Orientation

minus

Stabilized

minus

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

Make rs587783179(-;-)

Make rs587783179(-;G)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

113902663

Gene	AP4B1, DCLRE1B

is a	snp
is	mentioned by
dbSNP	rs587783179
dbSNP (classic)	rs587783179
ClinGen	rs587783179
ebi	rs587783179
HLI	rs587783179
Exac	rs587783179
Gnomad	rs587783179
Varsome	rs587783179
LitVar	rs587783179
Map	rs587783179
PheGenI	rs587783179
Biobank	rs587783179
1000 genomes	rs587783179
hgdp	rs587783179
ensembl	rs587783179
geneview	rs587783179
scholar	rs587783179
google	rs587783179
pharmgkb	rs587783179
gwascentral	rs587783179
openSNP	rs587783179
23andMe	rs587783179
SNPshot	rs587783179
SNPdbe	rs587783179
MSV3d	rs587783179
GWAS Ctlg	rs587783179

Max Magnitude

0

ClinVar
Risk	rs587783179(-;-)
Alt	rs587783179(-;-)
Reference	Rs587783179(G;G)
Significance	Pathogenic
Disease	Spastic paraplegia 47
Variation	info
Gene	AP4B1 DCLRE1B
CLNDBN	Spastic paraplegia 47, autosomal recessive
Reversed	1
HGVS	NC_000001.10:g.114445285delC
CLNSRC
CLNACC	RCV000145019.1,