rs886037744

Orientation

minus

Stabilized

minus

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

Make rs886037744(-;AGCCG)

Make rs886037744(AGCCG;AGCCG)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

49861671

Gene

PNKP

is a	snp
is	mentioned by
dbSNP	rs886037744
dbSNP (classic)	rs886037744
ClinGen	rs886037744
ebi	rs886037744
HLI	rs886037744
Exac	rs886037744
Gnomad	rs886037744
Varsome	rs886037744
LitVar	rs886037744
Map	rs886037744
PheGenI	rs886037744
Biobank	rs886037744
1000 genomes	rs886037744
hgdp	rs886037744
ensembl	rs886037744
geneview	rs886037744
scholar	rs886037744
google	rs886037744
pharmgkb	rs886037744
gwascentral	rs886037744
openSNP	rs886037744
23andMe	rs886037744
SNPshot	rs886037744
SNPdbe	rs886037744
MSV3d	rs886037744
GWAS Ctlg	rs886037744

Max Magnitude

0

ClinVar
Risk	rs886037744(AGCCG;AGCCG)
Alt	rs886037744(AGCCG;AGCCG)
Reference	Rs886037744(-;-)
Significance	Pathogenic
Disease	Ataxia-oculomotor apraxia 4
Variation	info
Gene	PNKP
CLNDBN	Ataxia-oculomotor apraxia 4
Reversed	1
HGVS	NC_000019.9:g.50364928_50364929insCGGCT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000167524.4,