Have questions? Visit https://www.reddit.com/r/SNPedia

rs119480073

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119480073(C;T)
Make rs119480073(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position11819590
GeneLPIN1
is asnp
is mentioned by
dbSNPrs119480073
ebirs119480073
HLIrs119480073
Exacrs119480073
Varsomers119480073
Maprs119480073
PheGenIrs119480073
hapmaprs119480073
1000 genomesrs119480073
hgdprs119480073
ensemblrs119480073
gopubmedrs119480073
geneviewrs119480073
scholarrs119480073
googlers119480073
pharmgkbrs119480073
gwascentralrs119480073
openSNPrs119480073
23andMers119480073
23andMe allrs119480073
SNP Nexus

SNPshotrs119480073
SNPdbers119480073
MSV3drs119480073
GWAS Ctlgrs119480073
Max Magnitude0
OMIM605518
Desc
Variant0003
Relatedalso
ClinVar
Risk rs119480073(A,T;A,T)
Alt rs119480073(A,T;A,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,