rs118204050

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a spastic paraplegia type 15 mutation

Make rs118204050(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

67802241

Gene

ZFYVE26

is a	snp
is	mentioned by
dbSNP	rs118204050
dbSNP (classic)	rs118204050
ClinGen	rs118204050
ebi	rs118204050
HLI	rs118204050
Exac	rs118204050
Gnomad	rs118204050
Varsome	rs118204050
LitVar	rs118204050
Map	rs118204050
PheGenI	rs118204050
Biobank	rs118204050
1000 genomes	rs118204050
hgdp	rs118204050
ensembl	rs118204050
geneview	rs118204050
scholar	rs118204050
google	rs118204050
pharmgkb	rs118204050
gwascentral	rs118204050
openSNP	rs118204050
23andMe	rs118204050
SNPshot	rs118204050
SNPdbe	rs118204050
MSV3d	rs118204050
GWAS Ctlg	rs118204050

Max Magnitude

3

aka c.1477C>T, p.Gln493Ter and Q493X

see ZFYVE26

OMIM	612012
Desc
Variant	0004
Related	also

ClinVar
Risk	rs118204050(T;T)
Alt	rs118204050(T;T)
Reference	Rs118204050(C;C)
Significance	Pathogenic
Disease	Spastic paraplegia 15
Variation	info
Gene	ZFYVE26
CLNDBN	Spastic paraplegia 15
Reversed	1
HGVS	NC_000014.8:g.68268958G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000788.2,