rs730880302

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;TTAG)	3	Carrier of an early-onset Parkinson's mutation
(TTAG;TTAG)	8.9	Parkinson's disease, type 6, early-onset

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

20650518

Gene	PINK1, PINK1-AS

is a	snp
is	mentioned by
dbSNP	rs730880302
dbSNP (classic)	rs730880302
ClinGen	rs730880302
ebi	rs730880302
HLI	rs730880302
Exac	rs730880302
Gnomad	rs730880302
Varsome	rs730880302
LitVar	rs730880302
Map	rs730880302
PheGenI	rs730880302
Biobank	rs730880302
1000 genomes	rs730880302
hgdp	rs730880302
ensembl	rs730880302
geneview	rs730880302
scholar	rs730880302
google	rs730880302
pharmgkb	rs730880302
gwascentral	rs730880302
openSNP	rs730880302
23andMe	rs730880302
SNPshot	rs730880302
SNPdbe	rs730880302
MSV3d	rs730880302
GWAS Ctlg	rs730880302

Max Magnitude

8.9

c.1570_1573dupTTAG (p.Asp525Valfs)

23andMe calls this i5038655

ClinVar
Risk	rs730880302(AGTT;AGTT)
Alt	rs730880302(AGTT;AGTT)
Reference	Rs730880302(-;-)
Significance	Pathogenic
Disease	Parkinson disease 6
Variation	info
Gene	PINK1-AS PINK1
CLNDBN	Parkinson disease 6, autosomal recessive early-onset
Reversed	0
HGVS	NC_000001.10:g.20977008_20977011dupTTAG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002510.4,