rs121434489

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)		If from Ancestry DNA, likely to be a miscall

Make rs121434489(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

2638310

Gene

PAFAH1B1

is a	snp
is	mentioned by
dbSNP	rs121434489
dbSNP (classic)	rs121434489
ClinGen	rs121434489
ebi	rs121434489
HLI	rs121434489
Exac	rs121434489
Gnomad	rs121434489
Varsome	rs121434489
LitVar	rs121434489
Map	rs121434489
PheGenI	rs121434489
Biobank	rs121434489
1000 genomes	rs121434489
hgdp	rs121434489
ensembl	rs121434489
geneview	rs121434489
scholar	rs121434489
google	rs121434489
pharmgkb	rs121434489
gwascentral	rs121434489
openSNP	rs121434489
23andMe	rs121434489
SNPshot	rs121434489
SNPdbe	rs121434489
MSV3d	rs121434489
GWAS Ctlg	rs121434489

Max Magnitude

0

OMIM	601545
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121434489(T;T)
Alt	rs121434489(T;T)
Reference	Rs121434489(C;C)
Significance	Pathogenic
Disease	Subcortical band heterotopia Lissencephaly 1
Variation	info
Gene	PAFAH1B1
CLNDBN	Subcortical band heterotopia Lissencephaly 1
Reversed	0
HGVS	NC_000017.10:g.2541604C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008548.2, RCV000008549.4,