rs587784254

Orientation

plus

Stabilized

plus

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

Make rs587784254(A;A)

Make rs587784254(A;T)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

2666061

Gene

PAFAH1B1

is a	snp
is	mentioned by
dbSNP	rs587784254
dbSNP (classic)	rs587784254
ClinGen	rs587784254
ebi	rs587784254
HLI	rs587784254
Exac	rs587784254
Gnomad	rs587784254
Varsome	rs587784254
LitVar	rs587784254
Map	rs587784254
PheGenI	rs587784254
Biobank	rs587784254
1000 genomes	rs587784254
hgdp	rs587784254
ensembl	rs587784254
geneview	rs587784254
scholar	rs587784254
google	rs587784254
pharmgkb	rs587784254
gwascentral	rs587784254
openSNP	rs587784254
23andMe	rs587784254
SNPshot	rs587784254
SNPdbe	rs587784254
MSV3d	rs587784254
GWAS Ctlg	rs587784254

Max Magnitude

0

ClinVar
Risk	rs587784254(A;A)
Alt	rs587784254(A;A)
Reference	Rs587784254(T;T)
Significance	Pathogenic
Disease	Lissencephaly 1
Variation	info
Gene	PAFAH1B1
CLNDBN	Lissencephaly 1
Reversed	0
HGVS	NC_000017.10:g.2569355T>A
CLNSRC
CLNACC	RCV000147023.1,