rs121434487

Orientation

plus

Stabilized

plus

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

Make rs121434487(A;A)

Make rs121434487(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

2670247

Gene

PAFAH1B1

is a	snp
is	mentioned by
dbSNP	rs121434487
dbSNP (classic)	rs121434487
ClinGen	rs121434487
ebi	rs121434487
HLI	rs121434487
Exac	rs121434487
Gnomad	rs121434487
Varsome	rs121434487
LitVar	rs121434487
Map	rs121434487
PheGenI	rs121434487
Biobank	rs121434487
1000 genomes	rs121434487
hgdp	rs121434487
ensembl	rs121434487
geneview	rs121434487
scholar	rs121434487
google	rs121434487
pharmgkb	rs121434487
gwascentral	rs121434487
openSNP	rs121434487
23andMe	rs121434487
SNPshot	rs121434487
SNPdbe	rs121434487
MSV3d	rs121434487
GWAS Ctlg	rs121434487

Max Magnitude

0

OMIM	601545
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121434487(A;A)
Alt	rs121434487(A;A)
Reference	Rs121434487(G;G)
Significance	Other
Disease	Lissencephaly 1
Variation	info
Gene	PAFAH1B1
CLNDBN	Lissencephaly 1
Reversed	0
HGVS	NC_000017.10:g.2573541G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008546.3,