rs387907057

Orientation

minus

Stabilized

minus

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

Make rs387907057(C;T)

Make rs387907057(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

67772109

Gene

ZFYVE26

is a	snp
is	mentioned by
dbSNP	rs387907057
dbSNP (classic)	rs387907057
ClinGen	rs387907057
ebi	rs387907057
HLI	rs387907057
Exac	rs387907057
Gnomad	rs387907057
Varsome	rs387907057
LitVar	rs387907057
Map	rs387907057
PheGenI	rs387907057
Biobank	rs387907057
1000 genomes	rs387907057
hgdp	rs387907057
ensembl	rs387907057
geneview	rs387907057
scholar	rs387907057
google	rs387907057
pharmgkb	rs387907057
gwascentral	rs387907057
openSNP	rs387907057
23andMe	rs387907057
SNPshot	rs387907057
SNPdbe	rs387907057
MSV3d	rs387907057
GWAS Ctlg	rs387907057

Max Magnitude

0

aka c.5422C>T, p.Gln1808Ter and Q1808X

see ZFYVE26

ClinVar
Risk	rs387907057(T;T)
Alt	rs387907057(T;T)
Reference	Rs387907057(C;C)
Significance	Pathogenic
Disease	Spastic paraplegia 15
Variation	info
Gene	ZFYVE26
CLNDBN	Spastic paraplegia 15
Reversed	1
HGVS	NC_000014.8:g.68238826G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023921.2,