rs121434490

Orientation

plus

Stabilized

plus

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

Make rs121434490(A;C)

Make rs121434490(C;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

2674218

Gene

PAFAH1B1

is a	snp
is	mentioned by
dbSNP	rs121434490
dbSNP (classic)	rs121434490
ClinGen	rs121434490
ebi	rs121434490
HLI	rs121434490
Exac	rs121434490
Gnomad	rs121434490
Varsome	rs121434490
LitVar	rs121434490
Map	rs121434490
PheGenI	rs121434490
Biobank	rs121434490
1000 genomes	rs121434490
hgdp	rs121434490
ensembl	rs121434490
geneview	rs121434490
scholar	rs121434490
google	rs121434490
pharmgkb	rs121434490
gwascentral	rs121434490
openSNP	rs121434490
23andMe	rs121434490
SNPshot	rs121434490
SNPdbe	rs121434490
MSV3d	rs121434490
GWAS Ctlg	rs121434490

Max Magnitude

0

OMIM	601545
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121434490(C;C)
Alt	rs121434490(C;C)
Reference	Rs121434490(A;A)
Significance	Pathogenic
Disease	Lissencephaly 1
Variation	info
Gene	PAFAH1B1
CLNDBN	Lissencephaly 1
Reversed	0
HGVS	NC_000017.10:g.2577512A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008550.2,