rs121918259

Orientation

plus

Stabilized

plus

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

Make rs121918259(C;T)

Make rs121918259(T;T)

Reference

GRCh37 37.1/132

Chromosome

11

Position

822494

Gene

PNPLA2

is a	snp
is	mentioned by
dbSNP	rs121918259
dbSNP (classic)	rs121918259
ClinGen	rs121918259
ebi	rs121918259
HLI	rs121918259
Exac	rs121918259
Gnomad	rs121918259
Varsome	rs121918259
LitVar	rs121918259
Map	rs121918259
PheGenI	rs121918259
Biobank	rs121918259
1000 genomes	rs121918259
hgdp	rs121918259
ensembl	rs121918259
geneview	rs121918259
scholar	rs121918259
google	rs121918259
pharmgkb	rs121918259
gwascentral	rs121918259
openSNP	rs121918259
23andMe	rs121918259
SNPshot	rs121918259
SNPdbe	rs121918259
MSV3d	rs121918259
GWAS Ctlg	rs121918259

Max Magnitude

0

OMIM	609059
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121918259(T;T)
Alt	rs121918259(T;T)
Reference	Rs121918259(C;C)
Significance	Pathogenic
Disease	Neutral lipid storage disease with myopathy
Variation	info
Gene	PNPLA2 RPLP2
CLNDBN	Neutral lipid storage disease with myopathy
Reversed	0
HGVS	NC_000011.9:g.822494C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001951.4,