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rs771466122

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs771466122(C;T)
Make rs771466122(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position154992746
GeneFLAD1, LENEP
is asnp
is mentioned by
dbSNPrs771466122
dbSNP (classic)rs771466122
ClinGenrs771466122
ebirs771466122
HLIrs771466122
Exacrs771466122
Gnomadrs771466122
Varsomers771466122
LitVarrs771466122
Maprs771466122
PheGenIrs771466122
Biobankrs771466122
1000 genomesrs771466122
hgdprs771466122
ensemblrs771466122
geneviewrs771466122
scholarrs771466122
googlers771466122
pharmgkbrs771466122
gwascentralrs771466122
openSNPrs771466122
23andMers771466122
SNPshotrs771466122
SNPdbers771466122
MSV3drs771466122
GWAS Ctlgrs771466122
Max Magnitude0
ClinVar
Risk rs771466122(T;T)
Alt rs771466122(T;T)
Reference Rs771466122(C;C)
Significance Pathogenic
Disease Glutaric aciduria Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency
Variation info
Gene FLAD1 LENEP
CLNDBN Glutaric aciduria, type 2 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency
Reversed 0
HGVS NC_000001.10:g.154965222C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000223948.1, RCV000234835.1,