rs137853051

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	3	Carrier of an early-onset Parkinson's mutation
(T;T)	8.7	Parkinson's disease, type 7, early-onset

Reference

GRCh38 38.1/141

Chromosome

1

Position

7965348

Gene

PARK7

is a	snp
is	mentioned by
dbSNP	rs137853051
dbSNP (classic)	rs137853051
ClinGen	rs137853051
ebi	rs137853051
HLI	rs137853051
Exac	rs137853051
Gnomad	rs137853051
Varsome	rs137853051
LitVar	rs137853051
Map	rs137853051
PheGenI	rs137853051
Biobank	rs137853051
1000 genomes	rs137853051
hgdp	rs137853051
ensembl	rs137853051
geneview	rs137853051
scholar	rs137853051
google	rs137853051
pharmgkb	rs137853051
gwascentral	rs137853051
openSNP	rs137853051
23andMe	rs137853051
SNPshot	rs137853051
SNPdbe	rs137853051
MSV3d	rs137853051
GWAS Ctlg	rs137853051

Max Magnitude

8.7

c.115G>T (p.Ala39Ser)

23andMe names this i5047046

OMIM	602533
Desc
Variant	0007
Related	also

ClinVar
Risk	Rs137853051(T;T)
Alt	Rs137853051(T;T)
Reference	Rs137853051(G;G)
Significance	Pathogenic
Disease	Parkinson disease
Variation	info
Gene	PARK7
CLNDBN	Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1
Reversed	0
HGVS	NC_000001.10:g.8025408G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007485.3,