rs786203983

Orientation

minus

Stabilized

minus

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

Make rs786203983(G;T)

Make rs786203983(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

49862188

Gene

PNKP

is a	snp
is	mentioned by
dbSNP	rs786203983
dbSNP (classic)	rs786203983
ClinGen	rs786203983
ebi	rs786203983
HLI	rs786203983
Exac	rs786203983
Gnomad	rs786203983
Varsome	rs786203983
LitVar	rs786203983
Map	rs786203983
PheGenI	rs786203983
Biobank	rs786203983
1000 genomes	rs786203983
hgdp	rs786203983
ensembl	rs786203983
geneview	rs786203983
scholar	rs786203983
google	rs786203983
pharmgkb	rs786203983
gwascentral	rs786203983
openSNP	rs786203983
23andMe	rs786203983
SNPshot	rs786203983
SNPdbe	rs786203983
MSV3d	rs786203983
GWAS Ctlg	rs786203983

Max Magnitude

0

ClinVar
Risk	rs786203983(T;T)
Alt	rs786203983(T;T)
Reference	Rs786203983(G;G)
Significance	Pathogenic
Disease	Ataxia-oculomotor apraxia 4
Variation	info
Gene	PNKP
CLNDBN	Ataxia-oculomotor apraxia 4
Reversed	1
HGVS	NC_000019.9:g.50365445C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000167523.4,