rs397704705

Orientation

plus

Stabilized

plus

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

Make rs397704705(GGAT;TGCTGTAAACTGTAACTGTAAA)

Make rs397704705(TGCTGTAAACTGTAACTGTAAA;TGCTGTAAACTGTAACTGTAAA)

Reference

GRCh38 38.1/141

Chromosome

7

Position

4781213

Gene

AP5Z1

is a	snp
is	mentioned by
dbSNP	rs397704705
dbSNP (classic)	rs397704705
ClinGen	rs397704705
ebi	rs397704705
HLI	rs397704705
Exac	rs397704705
Gnomad	rs397704705
Varsome	rs397704705
LitVar	rs397704705
Map	rs397704705
PheGenI	rs397704705
Biobank	rs397704705
1000 genomes	rs397704705
hgdp	rs397704705
ensembl	rs397704705
geneview	rs397704705
scholar	rs397704705
google	rs397704705
pharmgkb	rs397704705
gwascentral	rs397704705
openSNP	rs397704705
23andMe	rs397704705
SNPshot	rs397704705
SNPdbe	rs397704705
MSV3d	rs397704705
GWAS Ctlg	rs397704705

Max Magnitude

0

ClinVar
Risk	rs397704705(TGCTGTAAACTGTAACTGTAAA;TGCTGTAAACTGTAACTGTAAA)
Alt	rs397704705(TGCTGTAAACTGTAACTGTAAA;TGCTGTAAACTGTAACTGTAAA)
Reference	Rs397704705(GGAT;GGAT)
Significance	Pathogenic
Disease	Spastic paraplegia 48
Variation	info
Gene	AP5Z1
CLNDBN	Spastic paraplegia 48, autosomal recessive
Reversed	0
HGVS	NC_000007.13:g.4820844_4820847delGGATinsTGCTGTAAACTGTAACTGTAAA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000012.4,