rs119480072

Orientation

plus

Stabilized

plus

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

Make rs119480072(C;T)

Make rs119480072(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

11783834

Gene

LPIN1

is a	snp
is	mentioned by
dbSNP	rs119480072
dbSNP (classic)	rs119480072
ClinGen	rs119480072
ebi	rs119480072
HLI	rs119480072
Exac	rs119480072
Gnomad	rs119480072
Varsome	rs119480072
LitVar	rs119480072
Map	rs119480072
PheGenI	rs119480072
Biobank	rs119480072
1000 genomes	rs119480072
hgdp	rs119480072
ensembl	rs119480072
geneview	rs119480072
scholar	rs119480072
google	rs119480072
pharmgkb	rs119480072
gwascentral	rs119480072
openSNP	rs119480072
23andMe	rs119480072
SNPshot	rs119480072
SNPdbe	rs119480072
MSV3d	rs119480072
GWAS Ctlg	rs119480072

Max Magnitude

0

OMIM	605518
Desc
Variant	0002
Related	also

ClinVar
Risk	rs119480072(T;T)
Alt	rs119480072(T;T)
Reference	Rs119480072(C;C)
Significance	Pathogenic
Disease	Myoglobinuria
Variation	info
Gene	LPIN1
CLNDBN	Myoglobinuria, acute recurrent, autosomal recessive
Reversed	0
HGVS	NC_000002.11:g.11923960C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005193.2,