rs587784279

Orientation

plus

Stabilized

plus

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

Make rs587784279(A;G)

Make rs587784279(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

2672761

Gene

PAFAH1B1

is a	snp
is	mentioned by
dbSNP	rs587784279
dbSNP (classic)	rs587784279
ClinGen	rs587784279
ebi	rs587784279
HLI	rs587784279
Exac	rs587784279
Gnomad	rs587784279
Varsome	rs587784279
LitVar	rs587784279
Map	rs587784279
PheGenI	rs587784279
Biobank	rs587784279
1000 genomes	rs587784279
hgdp	rs587784279
ensembl	rs587784279
geneview	rs587784279
scholar	rs587784279
google	rs587784279
pharmgkb	rs587784279
gwascentral	rs587784279
openSNP	rs587784279
23andMe	rs587784279
SNPshot	rs587784279
SNPdbe	rs587784279
MSV3d	rs587784279
GWAS Ctlg	rs587784279

Max Magnitude

0

ClinVar
Risk	rs587784279(G;G)
Alt	rs587784279(G;G)
Reference	Rs587784279(A;A)
Significance	Probable-Pathogenic
Disease	Lissencephaly 1
Variation	info
Gene	PAFAH1B1
CLNDBN	Lissencephaly 1
Reversed	0
HGVS	NC_000017.10:g.2576055A>G
CLNSRC
CLNACC	RCV000147052.1,