rs869025309

Orientation

plus

Stabilized

plus

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

Make rs869025309(C;T)

Make rs869025309(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

131941630

Gene

PUS1

is a	snp
is	mentioned by
dbSNP	rs869025309
dbSNP (classic)	rs869025309
ClinGen	rs869025309
ebi	rs869025309
HLI	rs869025309
Exac	rs869025309
Gnomad	rs869025309
Varsome	rs869025309
LitVar	rs869025309
Map	rs869025309
PheGenI	rs869025309
Biobank	rs869025309
1000 genomes	rs869025309
hgdp	rs869025309
ensembl	rs869025309
geneview	rs869025309
scholar	rs869025309
google	rs869025309
pharmgkb	rs869025309
gwascentral	rs869025309
openSNP	rs869025309
23andMe	rs869025309
SNPshot	rs869025309
SNPdbe	rs869025309
MSV3d	rs869025309
GWAS Ctlg	rs869025309

Max Magnitude

0

ClinVar
Risk	rs869025309(T;T)
Alt	rs869025309(T;T)
Reference	Rs869025309(C;C)
Significance	Pathogenic
Disease	Myopathy
Variation	info
Gene	PUS1
CLNDBN	Myopathy, lactic acidosis, and sideroblastic anemia 1
Reversed	0
HGVS	NC_000012.11:g.132426175C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000207447.1,