Have questions? Visit https://www.reddit.com/r/SNPedia

rs370828455

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a spastic paraplegia type 15 mutation
Make rs370828455(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position67782971
GeneZFYVE26
is asnp
is mentioned by
dbSNPrs370828455
dbSNP (classic)rs370828455
ClinGenrs370828455
ebirs370828455
HLIrs370828455
Exacrs370828455
Gnomadrs370828455
Varsomers370828455
LitVarrs370828455
Maprs370828455
PheGenIrs370828455
Biobankrs370828455
1000 genomesrs370828455
hgdprs370828455
ensemblrs370828455
geneviewrs370828455
scholarrs370828455
googlers370828455
pharmgkbrs370828455
gwascentralrs370828455
openSNPrs370828455
23andMers370828455
SNPshotrs370828455
SNPdbers370828455
MSV3drs370828455
GWAS Ctlgrs370828455
Max Magnitude3

aka c.4181G>A, p.Trp1394Ter and W1394X

see ZFYVE26

ClinVar
Risk rs370828455(T;T)
Alt rs370828455(T;T)
Reference Rs370828455(C;C)
Significance Pathogenic
Disease Spastic paraplegia 15
Variation info
Gene ZFYVE26
CLNDBN Spastic paraplegia 15
Reversed 0
HGVS NC_000014.8:g.68249688C>T
CLNSRC Baylor College of Medicine
CLNACC RCV000191149.1,