rs121434486

Orientation

plus

Stabilized

plus

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

Make rs121434486(C;C)

Make rs121434486(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

2665431

Gene

PAFAH1B1

is a	snp
is	mentioned by
dbSNP	rs121434486
dbSNP (classic)	rs121434486
ClinGen	rs121434486
ebi	rs121434486
HLI	rs121434486
Exac	rs121434486
Gnomad	rs121434486
Varsome	rs121434486
LitVar	rs121434486
Map	rs121434486
PheGenI	rs121434486
Biobank	rs121434486
1000 genomes	rs121434486
hgdp	rs121434486
ensembl	rs121434486
geneview	rs121434486
scholar	rs121434486
google	rs121434486
pharmgkb	rs121434486
gwascentral	rs121434486
openSNP	rs121434486
23andMe	rs121434486
SNPshot	rs121434486
SNPdbe	rs121434486
MSV3d	rs121434486
GWAS Ctlg	rs121434486

Max Magnitude

0

OMIM	601545
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121434486(C;C)
Alt	rs121434486(C;C)
Reference	Rs121434486(T;T)
Significance	Pathogenic
Disease	Lissencephaly 1
Variation	info
Gene	PAFAH1B1
CLNDBN	Lissencephaly 1
Reversed	0
HGVS	NC_000017.10:g.2568725T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008545.2,