rs730880306

Orientation

plus

Stabilized

plus

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

Make rs730880306(C;C)

Make rs730880306(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

11785078

Gene

LPIN1

is a	snp
is	mentioned by
dbSNP	rs730880306
dbSNP (classic)	rs730880306
ClinGen	rs730880306
ebi	rs730880306
HLI	rs730880306
Exac	rs730880306
Gnomad	rs730880306
Varsome	rs730880306
LitVar	rs730880306
Map	rs730880306
PheGenI	rs730880306
Biobank	rs730880306
1000 genomes	rs730880306
hgdp	rs730880306
ensembl	rs730880306
geneview	rs730880306
scholar	rs730880306
google	rs730880306
pharmgkb	rs730880306
gwascentral	rs730880306
openSNP	rs730880306
23andMe	rs730880306
SNPshot	rs730880306
SNPdbe	rs730880306
MSV3d	rs730880306
GWAS Ctlg	rs730880306

Max Magnitude

0

ClinVar
Risk	rs730880306(C;C)
Alt	rs730880306(C;C)
Reference	Rs730880306(T;T)
Significance	Pathogenic
Disease	Myoglobinuria
Variation	info
Gene	LPIN1
CLNDBN	Myoglobinuria, acute recurrent, autosomal recessive
Reversed	0
HGVS	NC_000002.11:g.11925204T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005196.2,