rs113994202

Orientation

plus

Stabilized

plus

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

Make rs113994202(C;C)

Make rs113994202(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

2672645

Gene

PAFAH1B1

is a	snp
is	mentioned by
dbSNP	rs113994202
dbSNP (classic)	rs113994202
ClinGen	rs113994202
ebi	rs113994202
HLI	rs113994202
Exac	rs113994202
Gnomad	rs113994202
Varsome	rs113994202
LitVar	rs113994202
Map	rs113994202
PheGenI	rs113994202
Biobank	rs113994202
1000 genomes	rs113994202
hgdp	rs113994202
ensembl	rs113994202
geneview	rs113994202
scholar	rs113994202
google	rs113994202
pharmgkb	rs113994202
gwascentral	rs113994202
openSNP	rs113994202
23andMe	rs113994202
SNPshot	rs113994202
SNPdbe	rs113994202
MSV3d	rs113994202
GWAS Ctlg	rs113994202

Max Magnitude

0

ClinVar
Risk	rs113994202(C;C)
Alt	rs113994202(C;C)
Reference	Rs113994202(T;T)
Significance	Pathogenic
Disease	Lissencephaly 1 not specified
Variation	info
Gene	PAFAH1B1
CLNDBN	Lissencephaly 1 not specified
Reversed	0
HGVS	NC_000017.10:g.2575939T>C
CLNSRC	ClinVar GeneReviews University of Chicago
CLNACC	RCV000020304.3, RCV000494023.1,

OMIM	607432
Desc
Variant
Related	also