rs113994198

Orientation

plus

Stabilized

plus

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

Make rs113994198(-;-)

Make rs113994198(-;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

2666060

Gene

PAFAH1B1

is a	snp
is	mentioned by
dbSNP	rs113994198
dbSNP (classic)	rs113994198
ClinGen	rs113994198
ebi	rs113994198
HLI	rs113994198
Exac	rs113994198
Gnomad	rs113994198
Varsome	rs113994198
LitVar	rs113994198
Map	rs113994198
PheGenI	rs113994198
Biobank	rs113994198
1000 genomes	rs113994198
hgdp	rs113994198
ensembl	rs113994198
geneview	rs113994198
scholar	rs113994198
google	rs113994198
pharmgkb	rs113994198
gwascentral	rs113994198
openSNP	rs113994198
23andMe	rs113994198
SNPshot	rs113994198
SNPdbe	rs113994198
MSV3d	rs113994198
GWAS Ctlg	rs113994198

Max Magnitude

0

ClinVar
Risk	rs113994198(-;-)
Alt	rs113994198(-;-)
Reference	Rs113994198(A;A)
Significance	Pathogenic
Disease	Lissencephaly 1 not provided
Variation	info
Gene	PAFAH1B1
CLNDBN	Lissencephaly 1 not provided
Reversed	0
HGVS	NC_000017.10:g.2569354delA
CLNSRC	ClinVar GeneReviews University of Chicago
CLNACC	RCV000020302.2, RCV000255298.1,

OMIM	607432
Desc
Variant
Related	also