rs587784257

Orientation

plus

Stabilized

plus

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

Make rs587784257(C;C)

Make rs587784257(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

2666090

Gene

PAFAH1B1

is a	snp
is	mentioned by
dbSNP	rs587784257
dbSNP (classic)	rs587784257
ClinGen	rs587784257
ebi	rs587784257
HLI	rs587784257
Exac	rs587784257
Gnomad	rs587784257
Varsome	rs587784257
LitVar	rs587784257
Map	rs587784257
PheGenI	rs587784257
Biobank	rs587784257
1000 genomes	rs587784257
hgdp	rs587784257
ensembl	rs587784257
geneview	rs587784257
scholar	rs587784257
google	rs587784257
pharmgkb	rs587784257
gwascentral	rs587784257
openSNP	rs587784257
23andMe	rs587784257
SNPshot	rs587784257
SNPdbe	rs587784257
MSV3d	rs587784257
GWAS Ctlg	rs587784257

Max Magnitude

0

ClinVar
Risk	rs587784257(C;C)
Alt	rs587784257(C;C)
Reference	Rs587784257(G;G)
Significance	Pathogenic
Disease	Lissencephaly 1
Variation	info
Gene	PAFAH1B1
CLNDBN	Lissencephaly 1
Reversed	0
HGVS	NC_000017.10:g.2569384G>C
CLNSRC
CLNACC	RCV000147027.1,