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rs1057516899

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TGTT;TGTT) 0 common in clinvar
Make rs1057516899(-;-)
Make rs1057516899(-;TTGT)
Make rs1057516899(TTGT;TTGT)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12896234
GeneGCDH
is asnp
is mentioned by
dbSNPrs1057516899
dbSNP (old)rs1057516899
ClinGenrs1057516899
ebirs1057516899
HLIrs1057516899
Exacrs1057516899
Gnomadrs1057516899
Varsomers1057516899
Maprs1057516899
PheGenIrs1057516899
Biobankrs1057516899
1000 genomesrs1057516899
hgdprs1057516899
ensemblrs1057516899
gopubmedrs1057516899
geneviewrs1057516899
scholarrs1057516899
googlers1057516899
pharmgkbrs1057516899
gwascentralrs1057516899
openSNPrs1057516899
23andMers1057516899
23andMe allrs1057516899
SNPshotrs1057516899
SNPdbers1057516899
MSV3drs1057516899
GWAS Ctlgrs1057516899
Max Magnitude0
ClinVar
Risk rs1057516899(-;-)
Alt rs1057516899(-;-)
Reference Rs1057516899(TGTT;TGTT)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13007048_13007051delTTGT
CLNSRC
CLNACC RCV000410473.1,