rs387906799

Orientation

minus

Stabilized

minus

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

Make rs387906799(C;T)

Make rs387906799(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

240788118

Gene

KIF1A

is a	snp
is	mentioned by
dbSNP	rs387906799
dbSNP (classic)	rs387906799
ClinGen	rs387906799
ebi	rs387906799
HLI	rs387906799
Exac	rs387906799
Gnomad	rs387906799
Varsome	rs387906799
LitVar	rs387906799
Map	rs387906799
PheGenI	rs387906799
Biobank	rs387906799
1000 genomes	rs387906799
hgdp	rs387906799
ensembl	rs387906799
geneview	rs387906799
scholar	rs387906799
google	rs387906799
pharmgkb	rs387906799
gwascentral	rs387906799
openSNP	rs387906799
23andMe	rs387906799
SNPshot	rs387906799
SNPdbe	rs387906799
MSV3d	rs387906799
GWAS Ctlg	rs387906799

Max Magnitude

0

ClinVar
Risk	rs387906799(T;T)
Alt	rs387906799(T;T)
Reference	Rs387906799(C;C)
Significance	Pathogenic
Disease	Mental retardation PEHO syndrome not provided
Variation	info
Gene	KIF1A
CLNDBN	Mental retardation, autosomal dominant 9 PEHO syndrome not provided
Reversed	1
HGVS	NC_000002.11:g.241727535G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023087.4, RCV000207102.1, RCV000235916.1,