rs786200949

Orientation

minus

Stabilized

minus

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

Make rs786200949(C;T)

Make rs786200949(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

240788208

Gene

KIF1A

is a	snp
is	mentioned by
dbSNP	rs786200949
dbSNP (classic)	rs786200949
ClinGen	rs786200949
ebi	rs786200949
HLI	rs786200949
Exac	rs786200949
Gnomad	rs786200949
Varsome	rs786200949
LitVar	rs786200949
Map	rs786200949
PheGenI	rs786200949
Biobank	rs786200949
1000 genomes	rs786200949
hgdp	rs786200949
ensembl	rs786200949
geneview	rs786200949
scholar	rs786200949
google	rs786200949
pharmgkb	rs786200949
gwascentral	rs786200949
openSNP	rs786200949
23andMe	rs786200949
SNPshot	rs786200949
SNPdbe	rs786200949
MSV3d	rs786200949
GWAS Ctlg	rs786200949

Max Magnitude

0

ClinVar
Risk	rs786200949(T;T)
Alt	rs786200949(T;T)
Reference	Rs786200949(C;C)
Significance	Pathogenic
Disease	Hereditary spastic paraplegia
Variation	info
Gene	KIF1A
CLNDBN	Hereditary spastic paraplegia
Reversed	1
HGVS	NC_000002.11:g.241727625G>A
CLNSRC
CLNACC	RCV000167867.1,