rs587784293

Orientation

plus

Stabilized

plus

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

Make rs587784293(C;T)

Make rs587784293(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

2676542

Gene

PAFAH1B1

is a	snp
is	mentioned by
dbSNP	rs587784293
dbSNP (classic)	rs587784293
ClinGen	rs587784293
ebi	rs587784293
HLI	rs587784293
Exac	rs587784293
Gnomad	rs587784293
Varsome	rs587784293
LitVar	rs587784293
Map	rs587784293
PheGenI	rs587784293
Biobank	rs587784293
1000 genomes	rs587784293
hgdp	rs587784293
ensembl	rs587784293
geneview	rs587784293
scholar	rs587784293
google	rs587784293
pharmgkb	rs587784293
gwascentral	rs587784293
openSNP	rs587784293
23andMe	rs587784293
SNPshot	rs587784293
SNPdbe	rs587784293
MSV3d	rs587784293
GWAS Ctlg	rs587784293

Max Magnitude

0

ClinVar
Risk	rs587784293(T;T)
Alt	rs587784293(T;T)
Reference	Rs587784293(C;C)
Significance	Probable-Pathogenic
Disease	Lissencephaly 1
Variation	info
Gene	PAFAH1B1
CLNDBN	Lissencephaly 1
Reversed	0
HGVS	NC_000017.10:g.2579836C>T
CLNSRC
CLNACC	RCV000147069.1,