rs118204049

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 rs118204049(T;T)

Reference

GRCh38 38.1/142

Chromosome

14

Position

67782840

Gene

ZFYVE26

is a	snp
is	mentioned by
dbSNP	rs118204049
dbSNP (classic)	rs118204049
ClinGen	rs118204049
ebi	rs118204049
HLI	rs118204049
Exac	rs118204049
Gnomad	rs118204049
Varsome	rs118204049
LitVar	rs118204049
Map	rs118204049
PheGenI	rs118204049
Biobank	rs118204049
1000 genomes	rs118204049
hgdp	rs118204049
ensembl	rs118204049
geneview	rs118204049
scholar	rs118204049
google	rs118204049
pharmgkb	rs118204049
gwascentral	rs118204049
openSNP	rs118204049
23andMe	rs118204049
SNPshot	rs118204049
SNPdbe	rs118204049
MSV3d	rs118204049
GWAS Ctlg	rs118204049

Max Magnitude

3

aka c.4312C>T, p.Arg1438Ter and R1438X

see discussion at ZFYVE26

OMIM	612012
Desc
Variant	0001
Related	also

ClinVar
Risk	rs118204049(T;T)
Alt	rs118204049(T;T)
Reference	Rs118204049(C;C)
Significance	Other
Disease	Spastic paraplegia 15
Variation	info
Gene	ZFYVE26
CLNDBN	Spastic paraplegia 15
Reversed	1
HGVS	NC_000014.8:g.68249557G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000785.2,