rs119480073

Orientation

plus

Stabilized

plus

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

Make rs119480073(C;T)

Make rs119480073(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

11819590

Gene

LPIN1

is a	snp
is	mentioned by
dbSNP	rs119480073
dbSNP (classic)	rs119480073
ClinGen	rs119480073
ebi	rs119480073
HLI	rs119480073
Exac	rs119480073
Gnomad	rs119480073
Varsome	rs119480073
LitVar	rs119480073
Map	rs119480073
PheGenI	rs119480073
Biobank	rs119480073
1000 genomes	rs119480073
hgdp	rs119480073
ensembl	rs119480073
geneview	rs119480073
scholar	rs119480073
google	rs119480073
pharmgkb	rs119480073
gwascentral	rs119480073
openSNP	rs119480073
23andMe	rs119480073
SNPshot	rs119480073
SNPdbe	rs119480073
MSV3d	rs119480073
GWAS Ctlg	rs119480073

Max Magnitude

0

OMIM	605518
Desc
Variant	0003
Related	also

ClinVar
Risk	rs119480073(A;A) rs119480073(T;T)
Alt	rs119480073(A;A) rs119480073(T;T)
Reference	Rs119480073(C;C)
Significance	Pathogenic
Disease	Myoglobinuria
Variation	info
Gene	LPIN1
CLNDBN	Myoglobinuria, acute recurrent, autosomal recessive
Reversed	0
HGVS	NC_000002.11:g.11959716C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005194.2,