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rs119480071

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119480071(G;T)
Make rs119480071(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position11773666
GeneLPIN1
is asnp
is mentioned by
dbSNPrs119480071
ebirs119480071
HLIrs119480071
Exacrs119480071
Varsomers119480071
Maprs119480071
PheGenIrs119480071
hapmaprs119480071
1000 genomesrs119480071
hgdprs119480071
ensemblrs119480071
gopubmedrs119480071
geneviewrs119480071
scholarrs119480071
googlers119480071
pharmgkbrs119480071
gwascentralrs119480071
openSNPrs119480071
23andMers119480071
23andMe allrs119480071
SNP Nexus

SNPshotrs119480071
SNPdbers119480071
MSV3drs119480071
GWAS Ctlgrs119480071
Max Magnitude0
OMIM605518
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119480071(T;T)
Alt rs119480071(T;T)
Reference rs119480071(G;G)
Significance Pathogenic
Disease Myoglobinuria
Variation info
Gene LPIN1
CLNDBN Myoglobinuria, acute recurrent, autosomal recessive
Reversed 0
HGVS NC_000002.11:g.11913792G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005192.2,