rs587784294

Orientation

plus

Stabilized

plus

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

Make rs587784294(G;G)

Make rs587784294(G;T)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

2676569

Gene

PAFAH1B1

is a	snp
is	mentioned by
dbSNP	rs587784294
dbSNP (classic)	rs587784294
ClinGen	rs587784294
ebi	rs587784294
HLI	rs587784294
Exac	rs587784294
Gnomad	rs587784294
Varsome	rs587784294
LitVar	rs587784294
Map	rs587784294
PheGenI	rs587784294
Biobank	rs587784294
1000 genomes	rs587784294
hgdp	rs587784294
ensembl	rs587784294
geneview	rs587784294
scholar	rs587784294
google	rs587784294
pharmgkb	rs587784294
gwascentral	rs587784294
openSNP	rs587784294
23andMe	rs587784294
SNPshot	rs587784294
SNPdbe	rs587784294
MSV3d	rs587784294
GWAS Ctlg	rs587784294

Max Magnitude

0

ClinVar
Risk	rs587784294(G;G)
Alt	rs587784294(G;G)
Reference	Rs587784294(T;T)
Significance	Probable-Pathogenic
Disease	Lissencephaly 1
Variation	info
Gene	PAFAH1B1
CLNDBN	Lissencephaly 1
Reversed	0
HGVS	NC_000017.10:g.2579863T>G
CLNSRC
CLNACC	RCV000147070.1,