rs387906798

Orientation

minus

Stabilized

minus

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

Make rs387906798(C;T)

Make rs387906798(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

240783773

Gene

KIF1A

is a	snp
is	mentioned by
dbSNP	rs387906798
dbSNP (classic)	rs387906798
ClinGen	rs387906798
ebi	rs387906798
HLI	rs387906798
Exac	rs387906798
Gnomad	rs387906798
Varsome	rs387906798
LitVar	rs387906798
Map	rs387906798
PheGenI	rs387906798
Biobank	rs387906798
1000 genomes	rs387906798
hgdp	rs387906798
ensembl	rs387906798
geneview	rs387906798
scholar	rs387906798
google	rs387906798
pharmgkb	rs387906798
gwascentral	rs387906798
openSNP	rs387906798
23andMe	rs387906798
SNPshot	rs387906798
SNPdbe	rs387906798
MSV3d	rs387906798
GWAS Ctlg	rs387906798

Max Magnitude

0

ClinVar
Risk	rs387906798(T;T)
Alt	rs387906798(T;T)
Reference	Rs387906798(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.241723190G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023084.4,