rs387907259

Orientation

minus

Stabilized

minus

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

Make rs387907259(C;G)

Make rs387907259(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

240773246

Gene

KIF1A

is a	snp
is	mentioned by
dbSNP	rs387907259
dbSNP (classic)	rs387907259
ClinGen	rs387907259
ebi	rs387907259
HLI	rs387907259
Exac	rs387907259
Gnomad	rs387907259
Varsome	rs387907259
LitVar	rs387907259
Map	rs387907259
PheGenI	rs387907259
Biobank	rs387907259
1000 genomes	rs387907259
hgdp	rs387907259
ensembl	rs387907259
geneview	rs387907259
scholar	rs387907259
google	rs387907259
pharmgkb	rs387907259
gwascentral	rs387907259
openSNP	rs387907259
23andMe	rs387907259
SNPshot	rs387907259
SNPdbe	rs387907259
MSV3d	rs387907259
GWAS Ctlg	rs387907259

Max Magnitude

0

ClinVar
Risk	rs387907259(G;G)
Alt	rs387907259(G;G)
Reference	Rs387907259(C;C)
Significance	Pathogenic
Disease	Spastic paraplegia 30
Variation	info
Gene	KIF1A
CLNDBN	Spastic paraplegia 30, autosomal recessive
Reversed	1
HGVS	NC_000002.11:g.241712663G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000030681.4,