rs786205207

Orientation

minus

Stabilized

minus

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

Make rs786205207(-;-)

Make rs786205207(-;CAC)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

49861847

Gene

PNKP

is a	snp
is	mentioned by
dbSNP	rs786205207
dbSNP (classic)	rs786205207
ClinGen	rs786205207
ebi	rs786205207
HLI	rs786205207
Exac	rs786205207
Gnomad	rs786205207
Varsome	rs786205207
LitVar	rs786205207
Map	rs786205207
PheGenI	rs786205207
Biobank	rs786205207
1000 genomes	rs786205207
hgdp	rs786205207
ensembl	rs786205207
geneview	rs786205207
scholar	rs786205207
google	rs786205207
pharmgkb	rs786205207
gwascentral	rs786205207
openSNP	rs786205207
23andMe	rs786205207
SNPshot	rs786205207
SNPdbe	rs786205207
MSV3d	rs786205207
GWAS Ctlg	rs786205207

Max Magnitude

0

ClinVar
Risk	rs786205207(-;-)
Alt	rs786205207(-;-)
Reference	Rs786205207(CAC;CAC)
Significance	Pathogenic
Disease	Ataxia-oculomotor apraxia 4
Variation	info
Gene	PNKP
CLNDBN	Ataxia-oculomotor apraxia 4
Reversed	1
HGVS	NC_000019.9:g.50365104_50365106delGTG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000170438.2,