rs730882224

Orientation

minus

Stabilized

minus

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

Make rs730882224(-;AACGGGTCGCCATCGAC)

Make rs730882224(AACGGGTCGCCATCGAC;AACGGGTCGCCATCGAC)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

49861819

Gene

PNKP

is a	snp
is	mentioned by
dbSNP	rs730882224
dbSNP (classic)	rs730882224
ClinGen	rs730882224
ebi	rs730882224
HLI	rs730882224
Exac	rs730882224
Gnomad	rs730882224
Varsome	rs730882224
LitVar	rs730882224
Map	rs730882224
PheGenI	rs730882224
Biobank	rs730882224
1000 genomes	rs730882224
hgdp	rs730882224
ensembl	rs730882224
geneview	rs730882224
scholar	rs730882224
google	rs730882224
pharmgkb	rs730882224
gwascentral	rs730882224
openSNP	rs730882224
23andMe	rs730882224
SNPshot	rs730882224
SNPdbe	rs730882224
MSV3d	rs730882224
GWAS Ctlg	rs730882224

Max Magnitude

0

ClinVar
Risk	rs730882224(ACGGGTCGCCATCGACA;ACGGGTCGCCATCGACA)
Alt	rs730882224(ACGGGTCGCCATCGACA;ACGGGTCGCCATCGACA)
Reference	Rs730882224(-;-)
Significance	Probable-Pathogenic
Disease	Cerebellar atrophy Global developmental delay Primary microcephaly
Variation	info
Gene	PNKP
CLNDBN	Cerebellar atrophy Global developmental delay Primary microcephaly
Reversed	1
HGVS	NC_000019.9:g.50365076_50365077insGTCGATGGCGACCCGTT
CLNSRC
CLNACC	RCV000162138.1,