rs587784242

Orientation

plus

Stabilized

plus

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

Make rs587784242(C;T)

Make rs587784242(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

2680296

Gene

PAFAH1B1

is a	snp
is	mentioned by
dbSNP	rs587784242
dbSNP (classic)	rs587784242
ClinGen	rs587784242
ebi	rs587784242
HLI	rs587784242
Exac	rs587784242
Gnomad	rs587784242
Varsome	rs587784242
LitVar	rs587784242
Map	rs587784242
PheGenI	rs587784242
Biobank	rs587784242
1000 genomes	rs587784242
hgdp	rs587784242
ensembl	rs587784242
geneview	rs587784242
scholar	rs587784242
google	rs587784242
pharmgkb	rs587784242
gwascentral	rs587784242
openSNP	rs587784242
23andMe	rs587784242
SNPshot	rs587784242
SNPdbe	rs587784242
MSV3d	rs587784242
GWAS Ctlg	rs587784242

Max Magnitude

0

ClinVar
Risk	rs587784242(T;T)
Alt	rs587784242(T;T)
Reference	Rs587784242(C;C)
Significance	Pathogenic
Disease	Lissencephaly 1
Variation	info
Gene	PAFAH1B1
CLNDBN	Lissencephaly 1
Reversed	0
HGVS	NC_000017.10:g.2583590C>T
CLNSRC
CLNACC	RCV000147011.1,