rs113994200

Orientation

plus

Stabilized

plus

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

Make rs113994200(-;-)

Make rs113994200(-;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

2680211

Gene

PAFAH1B1

is a	snp
is	mentioned by
dbSNP	rs113994200
dbSNP (classic)	rs113994200
ClinGen	rs113994200
ebi	rs113994200
HLI	rs113994200
Exac	rs113994200
Gnomad	rs113994200
Varsome	rs113994200
LitVar	rs113994200
Map	rs113994200
PheGenI	rs113994200
Biobank	rs113994200
1000 genomes	rs113994200
hgdp	rs113994200
ensembl	rs113994200
geneview	rs113994200
scholar	rs113994200
google	rs113994200
pharmgkb	rs113994200
gwascentral	rs113994200
openSNP	rs113994200
23andMe	rs113994200
SNPshot	rs113994200
SNPdbe	rs113994200
MSV3d	rs113994200
GWAS Ctlg	rs113994200

Max Magnitude

0

ClinVar
Risk	rs113994200(-;-)
Alt	rs113994200(-;-)
Reference	Rs113994200(G;G)
Significance	Pathogenic
Disease	Lissencephaly 1 not provided
Variation	info
Gene	PAFAH1B1
CLNDBN	Lissencephaly 1 not provided
Reversed	0
HGVS	NC_000017.10:g.2583505delG
CLNSRC	ClinVar GeneReviews University of Chicago
CLNACC	RCV000020298.2, RCV000254776.1,

OMIM	607432
Desc
Variant
Related	also