rs387906970

Orientation

plus

Stabilized

plus

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

Make rs387906970(C;T)

Make rs387906970(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

31066320

Gene

AP4S1

is a	snp
is	mentioned by
dbSNP	rs387906970
dbSNP (classic)	rs387906970
ClinGen	rs387906970
ebi	rs387906970
HLI	rs387906970
Exac	rs387906970
Gnomad	rs387906970
Varsome	rs387906970
LitVar	rs387906970
Map	rs387906970
PheGenI	rs387906970
Biobank	rs387906970
1000 genomes	rs387906970
hgdp	rs387906970
ensembl	rs387906970
geneview	rs387906970
scholar	rs387906970
google	rs387906970
pharmgkb	rs387906970
gwascentral	rs387906970
openSNP	rs387906970
23andMe	rs387906970
SNPshot	rs387906970
SNPdbe	rs387906970
MSV3d	rs387906970
GWAS Ctlg	rs387906970

Max Magnitude

0

ClinVar
Risk	rs387906970(A;A) rs387906970(G;G) rs387906970(T;T)
Alt	rs387906970(A;A) rs387906970(G;G) rs387906970(T;T)
Reference	Rs387906970(C;C)
Significance	Pathogenic
Disease	not provided Spastic paraplegia 52
Variation	info
Gene	AP4S1
CLNDBN	not provided Spastic paraplegia 52, autosomal recessive
Reversed	0
HGVS	NC_000014.8:g.31535526C>A; NC_000014.8:g.31535526C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000116370.1, RCV000023635.3,