rs121434488

Orientation

plus

Stabilized

plus

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

Make rs121434488(C;C)

Make rs121434488(C;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

2674110

Gene

PAFAH1B1

is a	snp
is	mentioned by
dbSNP	rs121434488
dbSNP (classic)	rs121434488
ClinGen	rs121434488
ebi	rs121434488
HLI	rs121434488
Exac	rs121434488
Gnomad	rs121434488
Varsome	rs121434488
LitVar	rs121434488
Map	rs121434488
PheGenI	rs121434488
Biobank	rs121434488
1000 genomes	rs121434488
hgdp	rs121434488
ensembl	rs121434488
geneview	rs121434488
scholar	rs121434488
google	rs121434488
pharmgkb	rs121434488
gwascentral	rs121434488
openSNP	rs121434488
23andMe	rs121434488
SNPshot	rs121434488
SNPdbe	rs121434488
MSV3d	rs121434488
GWAS Ctlg	rs121434488

Max Magnitude

0

OMIM	601545
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121434488(A;A) rs121434488(C;C)
Alt	rs121434488(A;A) rs121434488(C;C)
Reference	Rs121434488(G;G)
Significance	Pathogenic
Disease	Subcortical band heterotopia
Variation	info
Gene	PAFAH1B1
CLNDBN	Subcortical band heterotopia
Reversed	0
HGVS	NC_000017.10:g.2577404G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008547.2,