Have questions? Visit https://www.reddit.com/r/SNPedia

rs730880302

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position20650518
GenePINK1, PINK1-AS
is asnp
is mentioned by
dbSNPrs730880302
dbSNP (old)rs730880302
ClinGenrs730880302
ebirs730880302
HLIrs730880302
Exacrs730880302
Gnomadrs730880302
Varsomers730880302
Maprs730880302
PheGenIrs730880302
Biobankrs730880302
1000 genomesrs730880302
hgdprs730880302
ensemblrs730880302
gopubmedrs730880302
geneviewrs730880302
scholarrs730880302
googlers730880302
pharmgkbrs730880302
gwascentralrs730880302
openSNPrs730880302
23andMers730880302
23andMe allrs730880302
SNP Nexus

SNPshotrs730880302
SNPdbers730880302
MSV3drs730880302
GWAS Ctlgrs730880302
Max Magnitude8.9

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,