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

rs730880306

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730880306(C;C)
Make rs730880306(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position11785078
GeneLPIN1
is asnp
is mentioned by
dbSNPrs730880306
ebirs730880306
HLIrs730880306
Exacrs730880306
Varsomers730880306
Maprs730880306
PheGenIrs730880306
hapmaprs730880306
1000 genomesrs730880306
hgdprs730880306
ensemblrs730880306
gopubmedrs730880306
geneviewrs730880306
scholarrs730880306
googlers730880306
pharmgkbrs730880306
gwascentralrs730880306
openSNPrs730880306
23andMers730880306
23andMe allrs730880306
SNP Nexus

SNPshotrs730880306
SNPdbers730880306
MSV3drs730880306
GWAS Ctlgrs730880306
Max Magnitude0
ClinVar
Risk rs730880306(C;C)
Alt rs730880306(C;C)
Reference rs730880306(T;T)
Significance Pathogenic
Disease Myoglobinuria
Variation info
Gene LPIN1
CLNDBN Myoglobinuria, acute recurrent, autosomal recessive
Reversed 0
HGVS NC_000002.11:g.11925204T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005196.2,