rs587784248

Orientation

plus

Stabilized

plus

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

Make rs587784248(C;C)

Make rs587784248(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

2681765

Gene

PAFAH1B1

is a	snp
is	mentioned by
dbSNP	rs587784248
dbSNP (classic)	rs587784248
ClinGen	rs587784248
ebi	rs587784248
HLI	rs587784248
Exac	rs587784248
Gnomad	rs587784248
Varsome	rs587784248
LitVar	rs587784248
Map	rs587784248
PheGenI	rs587784248
Biobank	rs587784248
1000 genomes	rs587784248
hgdp	rs587784248
ensembl	rs587784248
geneview	rs587784248
scholar	rs587784248
google	rs587784248
pharmgkb	rs587784248
gwascentral	rs587784248
openSNP	rs587784248
23andMe	rs587784248
SNPshot	rs587784248
SNPdbe	rs587784248
MSV3d	rs587784248
GWAS Ctlg	rs587784248

Max Magnitude

0

ClinVar
Risk	rs587784248(C;C)
Alt	rs587784248(C;C)
Reference	Rs587784248(G;G)
Significance	Pathogenic
Disease	Lissencephaly 1
Variation	info
Gene	PAFAH1B1
CLNDBN	Lissencephaly 1
Reversed	0
HGVS	NC_000017.10:g.2585059G>C
CLNSRC
CLNACC	RCV000147017.1,