rs879255517

Orientation

plus

Stabilized

plus

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

Make rs879255517(-;-)

Make rs879255517(-;C)

Reference

GRCh38.p2 38.2/147

Chromosome

16

Position

57751655

Gene

KATNB1

is a	snp
is	mentioned by
dbSNP	rs879255517
dbSNP (classic)	rs879255517
ClinGen	rs879255517
ebi	rs879255517
HLI	rs879255517
Exac	rs879255517
Gnomad	rs879255517
Varsome	rs879255517
LitVar	rs879255517
Map	rs879255517
PheGenI	rs879255517
Biobank	rs879255517
1000 genomes	rs879255517
hgdp	rs879255517
ensembl	rs879255517
geneview	rs879255517
scholar	rs879255517
google	rs879255517
pharmgkb	rs879255517
gwascentral	rs879255517
openSNP	rs879255517
23andMe	rs879255517
SNPshot	rs879255517
SNPdbe	rs879255517
MSV3d	rs879255517
GWAS Ctlg	rs879255517

Max Magnitude

0

ClinVar
Risk	rs879255517(-;-)
Alt	rs879255517(-;-)
Reference	Rs879255517(C;C)
Significance	Pathogenic
Disease	Lissencephaly 6
Variation	info
Gene	KATNB1
CLNDBN	Lissencephaly 6, with microcephaly
Reversed	0
HGVS	NC_000016.9:g.57785567delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000157599.5,