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rs876661312

From SNPedia

Orientationplus
Geno Mag Summary
(GCAGGGGGCATC;GCAGGGGGCATC) 0 common in clinvar
Make rs876661312(CA;CA)
Make rs876661312(CA;GCAGGGGGCATC)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position154988258
GeneFLAD1
is asnp
is mentioned by
dbSNPrs876661312
ebirs876661312
HLIrs876661312
Exacrs876661312
Varsomers876661312
Maprs876661312
PheGenIrs876661312
hapmaprs876661312
1000 genomesrs876661312
hgdprs876661312
ensemblrs876661312
gopubmedrs876661312
geneviewrs876661312
scholarrs876661312
googlers876661312
pharmgkbrs876661312
gwascentralrs876661312
openSNPrs876661312
23andMers876661312
23andMe allrs876661312
SNP Nexus

SNPshotrs876661312
SNPdbers876661312
MSV3drs876661312
GWAS Ctlgrs876661312
Max Magnitude0
ClinVar
Risk rs876661312(CA;CA)
Alt rs876661312(CA;CA)
Reference rs876661312(GCAGGGGGCATC;GCAGGGGGCATC)
Significance Pathogenic
Disease Glutaric aciduria Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency
Variation info
Gene FLAD1
CLNDBN Glutaric aciduria, type 2 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency
Reversed 0
HGVS NC_000001.10:g.154960734_154960745delGCAGGGGGCATCinsCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000223945.1, RCV000234836.2,