rs200440467

Orientation

plus

Stabilized

plus

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

Make rs200440467(C;T)

Make rs200440467(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

14

Position

31072968

Gene

AP4S1

is a	snp
is	mentioned by
dbSNP	rs200440467
dbSNP (classic)	rs200440467
ClinGen	rs200440467
ebi	rs200440467
HLI	rs200440467
Exac	rs200440467
Gnomad	rs200440467
Varsome	rs200440467
LitVar	rs200440467
Map	rs200440467
PheGenI	rs200440467
Biobank	rs200440467
1000 genomes	rs200440467
hgdp	rs200440467
ensembl	rs200440467
geneview	rs200440467
scholar	rs200440467
google	rs200440467
pharmgkb	rs200440467
gwascentral	rs200440467
openSNP	rs200440467
23andMe	rs200440467
SNPshot	rs200440467
SNPdbe	rs200440467
MSV3d	rs200440467
GWAS Ctlg	rs200440467

Max Magnitude

0

ClinVar
Risk	rs200440467(T;T)
Alt	rs200440467(T;T)
Reference	Rs200440467(C;C)
Significance	Pathogenic
Disease	Spastic paraplegia 52 not provided
Variation	info
Gene	AP4S1
CLNDBN	Spastic paraplegia 52, autosomal recessive not provided
Reversed	0
HGVS	NC_000014.8:g.31542174C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000223666.1, RCV000443008.1,