rs113994199

Orientation

plus

Stabilized

plus

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

Make rs113994199(-;A)

Make rs113994199(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

2666060

Gene

PAFAH1B1

is a	snp
is	mentioned by
dbSNP	rs113994199
dbSNP (classic)	rs113994199
ClinGen	rs113994199
ebi	rs113994199
HLI	rs113994199
Exac	rs113994199
Gnomad	rs113994199
Varsome	rs113994199
LitVar	rs113994199
Map	rs113994199
PheGenI	rs113994199
Biobank	rs113994199
1000 genomes	rs113994199
hgdp	rs113994199
ensembl	rs113994199
geneview	rs113994199
scholar	rs113994199
google	rs113994199
pharmgkb	rs113994199
gwascentral	rs113994199
openSNP	rs113994199
23andMe	rs113994199
SNPshot	rs113994199
SNPdbe	rs113994199
MSV3d	rs113994199
GWAS Ctlg	rs113994199

Max Magnitude

0

ClinVar
Risk	rs113994199(A;A)
Alt	rs113994199(A;A)
Reference	Rs113994199(-;-)
Significance	Pathogenic
Disease	Lissencephaly 1 not provided
Variation	info
Gene	PAFAH1B1
CLNDBN	Lissencephaly 1 not provided
Reversed	0
HGVS	NC_000017.10:g.2569354dupA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020303.2, RCV000364082.1,