rs796065310

Orientation

plus

Stabilized

plus

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

Make rs796065310(-;CTCC)

Make rs796065310(CTCC;CTCC)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

822015

Gene

PNPLA2

is a	snp
is	mentioned by
dbSNP	rs796065310
dbSNP (classic)	rs796065310
ClinGen	rs796065310
ebi	rs796065310
HLI	rs796065310
Exac	rs796065310
Gnomad	rs796065310
Varsome	rs796065310
LitVar	rs796065310
Map	rs796065310
PheGenI	rs796065310
Biobank	rs796065310
1000 genomes	rs796065310
hgdp	rs796065310
ensembl	rs796065310
geneview	rs796065310
scholar	rs796065310
google	rs796065310
pharmgkb	rs796065310
gwascentral	rs796065310
openSNP	rs796065310
23andMe	rs796065310
SNPshot	rs796065310
SNPdbe	rs796065310
MSV3d	rs796065310
GWAS Ctlg	rs796065310

Max Magnitude

0

ClinVar
Risk	rs796065310(TCCC;TCCC)
Alt	rs796065310(TCCC;TCCC)
Reference	Rs796065310(-;-)
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.822012_822015dupCTCC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000055643.4,