rs370837940

Orientation

plus

Stabilized

plus

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

Make rs370837940(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

67754158

Gene

ZFYVE26

is a	snp
is	mentioned by
dbSNP	rs370837940
dbSNP (classic)	rs370837940
ClinGen	rs370837940
ebi	rs370837940
HLI	rs370837940
Exac	rs370837940
Gnomad	rs370837940
Varsome	rs370837940
LitVar	rs370837940
Map	rs370837940
PheGenI	rs370837940
Biobank	rs370837940
1000 genomes	rs370837940
hgdp	rs370837940
ensembl	rs370837940
geneview	rs370837940
scholar	rs370837940
google	rs370837940
pharmgkb	rs370837940
gwascentral	rs370837940
openSNP	rs370837940
23andMe	rs370837940
SNPshot	rs370837940
SNPdbe	rs370837940
MSV3d	rs370837940
GWAS Ctlg	rs370837940

Max Magnitude

3

aka c.7041C>A, p.Cys2347Ter and C2347X; also, c.7041C>T (p.Cys2347=, a synonymous variant)

see ZFYVE26

ClinVar
Risk	rs370837940(A;A) rs370837940(T;T)
Alt	rs370837940(A;A) rs370837940(T;T)
Reference	Rs370837940(G;G)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	ZFYVE26
CLNDBN	not provided
Reversed	0
HGVS	NC_000014.8:g.68220875G>T
CLNSRC
CLNACC	RCV000486430.1,