rs104894372

Orientation

plus

Stabilized

plus

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

Make rs104894372(G;T)

Make rs104894372(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

131941405

Gene

PUS1

is a	snp
is	mentioned by
dbSNP	rs104894372
dbSNP (classic)	rs104894372
ClinGen	rs104894372
ebi	rs104894372
HLI	rs104894372
Exac	rs104894372
Gnomad	rs104894372
Varsome	rs104894372
LitVar	rs104894372
Map	rs104894372
PheGenI	rs104894372
Biobank	rs104894372
1000 genomes	rs104894372
hgdp	rs104894372
ensembl	rs104894372
geneview	rs104894372
scholar	rs104894372
google	rs104894372
pharmgkb	rs104894372
gwascentral	rs104894372
openSNP	rs104894372
23andMe	rs104894372
SNPshot	rs104894372
SNPdbe	rs104894372
MSV3d	rs104894372
GWAS Ctlg	rs104894372

Max Magnitude

0

OMIM	608109
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894372(T;T)
Alt	rs104894372(T;T)
Reference	Rs104894372(G;G)
Significance	Pathogenic
Disease	Myopathy
Variation	info
Gene	PUS1
CLNDBN	Myopathy, lactic acidosis, and sideroblastic anemia 1
Reversed	0
HGVS	NC_000012.11:g.132425950G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002646.2,