rs672601365

Orientation

minus

Stabilized

minus

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

Make rs672601365(C;T)

Make rs672601365(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

240786444

Gene

KIF1A

is a	snp
is	mentioned by
dbSNP	rs672601365
dbSNP (classic)	rs672601365
ClinGen	rs672601365
ebi	rs672601365
HLI	rs672601365
Exac	rs672601365
Gnomad	rs672601365
Varsome	rs672601365
LitVar	rs672601365
Map	rs672601365
PheGenI	rs672601365
Biobank	rs672601365
1000 genomes	rs672601365
hgdp	rs672601365
ensembl	rs672601365
geneview	rs672601365
scholar	rs672601365
google	rs672601365
pharmgkb	rs672601365
gwascentral	rs672601365
openSNP	rs672601365
23andMe	rs672601365
SNPshot	rs672601365
SNPdbe	rs672601365
MSV3d	rs672601365
GWAS Ctlg	rs672601365

Max Magnitude

0

ClinVar
Risk	rs672601365(T;T)
Alt	rs672601365(T;T)
Reference	Rs672601365(C;C)
Significance	Probable-Pathogenic
Disease	Mental retardation
Variation	info
Gene	KIF1A
CLNDBN	Mental retardation, autosomal dominant 9
Reversed	1
HGVS	NC_000002.11:g.241725861G>A
CLNSRC
CLNACC	RCV000149477.1,