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rs119480072

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119480072(C;T)
Make rs119480072(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position11783834
GeneLPIN1
is asnp
is mentioned by
dbSNPrs119480072
ebirs119480072
HLIrs119480072
Exacrs119480072
Varsomers119480072
Maprs119480072
PheGenIrs119480072
hapmaprs119480072
1000 genomesrs119480072
hgdprs119480072
ensemblrs119480072
gopubmedrs119480072
geneviewrs119480072
scholarrs119480072
googlers119480072
pharmgkbrs119480072
gwascentralrs119480072
openSNPrs119480072
23andMers119480072
23andMe allrs119480072
SNP Nexus

SNPshotrs119480072
SNPdbers119480072
MSV3drs119480072
GWAS Ctlgrs119480072
Max Magnitude0
OMIM605518
Desc
Variant0002
Relatedalso
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,