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rs28941768

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28941768(C;T)
Make rs28941768(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position46151945
GeneFTCD
is asnp
is mentioned by
dbSNPrs28941768
ebirs28941768
HLIrs28941768
Exacrs28941768
Varsomers28941768
Maprs28941768
PheGenIrs28941768
hapmaprs28941768
1000 genomesrs28941768
hgdprs28941768
ensemblrs28941768
gopubmedrs28941768
geneviewrs28941768
scholarrs28941768
googlers28941768
pharmgkbrs28941768
gwascentralrs28941768
openSNPrs28941768
23andMers28941768
23andMe allrs28941768
SNP Nexus

SNPshotrs28941768
SNPdbers28941768
MSV3drs28941768
GWAS Ctlgrs28941768
Max Magnitude0
OMIM606806
DescGLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
Variant0001
Relatedalso


ClinVar
Risk rs28941768(T;T)
Alt rs28941768(T;T)
Reference rs28941768(C;C)
Significance Pathogenic
Disease GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
Variation info
Gene FTCD
CLNDBN GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
Reversed 1
HGVS NC_000021.8:g.47571859G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004232.4,