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rs876661313

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TTCT;TTCT) 0 common in clinvar
Make rs876661313(-;-)
Make rs876661313(-;TTCT)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position154988133
GeneFLAD1
is asnp
is mentioned by
dbSNPrs876661313
dbSNP (classic)rs876661313
ClinGenrs876661313
ebirs876661313
HLIrs876661313
Exacrs876661313
Gnomadrs876661313
Varsomers876661313
LitVarrs876661313
Maprs876661313
PheGenIrs876661313
Biobankrs876661313
1000 genomesrs876661313
hgdprs876661313
ensemblrs876661313
geneviewrs876661313
scholarrs876661313
googlers876661313
pharmgkbrs876661313
gwascentralrs876661313
openSNPrs876661313
23andMers876661313
SNPshotrs876661313
SNPdbers876661313
MSV3drs876661313
GWAS Ctlgrs876661313
Max Magnitude0
ClinVar
Risk rs876661313(-;-)
Alt rs876661313(-;-)
Reference Rs876661313(TTCT;TTCT)
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.154960609_154960612delTTCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000223949.1, RCV000234837.1,