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rs727503895

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTACCTTGTTAC;TTACCTTGTTAC) 0 common in clinvar
Make rs727503895(-;-)
Make rs727503895(-;TTACCTTGTTAC)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position100218751
GeneDBT
is asnp
is mentioned by
dbSNPrs727503895
dbSNP (classic)rs727503895
ClinGenrs727503895
ebirs727503895
HLIrs727503895
Exacrs727503895
Gnomadrs727503895
Varsomers727503895
LitVarrs727503895
Maprs727503895
PheGenIrs727503895
Biobankrs727503895
1000 genomesrs727503895
hgdprs727503895
ensemblrs727503895
geneviewrs727503895
scholarrs727503895
googlers727503895
pharmgkbrs727503895
gwascentralrs727503895
openSNPrs727503895
23andMers727503895
SNPshotrs727503895
SNPdbers727503895
MSV3drs727503895
GWAS Ctlgrs727503895
Max Magnitude0
ClinVar
Risk rs727503895(-;-)
Alt rs727503895(-;-)
Reference Rs727503895(TTACCTTGTTAC;TTACCTTGTTAC)
Significance Pathogenic
Disease not provided Maple syrup urine disease
Variation info
Gene DBT
CLNDBN not provided Maple syrup urine disease
Reversed 1
HGVS NC_000001.10:g.100684307_100684318delGTAACAAGGTAA
CLNSRC HGMD
CLNACC RCV000153138.2, RCV000178857.1,