rs672601368

Orientation

minus

Stabilized

minus

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

Make rs672601368(C;C)

Make rs672601368(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

240785062

Gene

KIF1A

is a	snp
is	mentioned by
dbSNP	rs672601368
dbSNP (classic)	rs672601368
ClinGen	rs672601368
ebi	rs672601368
HLI	rs672601368
Exac	rs672601368
Gnomad	rs672601368
Varsome	rs672601368
LitVar	rs672601368
Map	rs672601368
PheGenI	rs672601368
Biobank	rs672601368
1000 genomes	rs672601368
hgdp	rs672601368
ensembl	rs672601368
geneview	rs672601368
scholar	rs672601368
google	rs672601368
pharmgkb	rs672601368
gwascentral	rs672601368
openSNP	rs672601368
23andMe	rs672601368
SNPshot	rs672601368
SNPdbe	rs672601368
MSV3d	rs672601368
GWAS Ctlg	rs672601368

Max Magnitude

0

ClinVar
Risk	rs672601368(A;A) rs672601368(C;C)
Alt	rs672601368(A;A) rs672601368(C;C)
Reference	Rs672601368(G;G)
Significance	Pathogenic
Disease	Mental retardation PEHO syndrome
Variation	info
Gene	KIF1A
CLNDBN	Mental retardation, autosomal dominant 9 PEHO syndrome
Reversed	1
HGVS	NC_000002.11:g.241724479C>G; NC_000002.11:g.241724479C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000149480.1, RCV000191021.3, RCV000207040.1,