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rs777099958

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs777099958(-;C)
Make rs777099958(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position46138584
GeneFTCD
is asnp
is mentioned by
dbSNPrs777099958
ClinGenrs777099958
ebirs777099958
HLIrs777099958
Exacrs777099958
Varsomers777099958
Maprs777099958
PheGenIrs777099958
hapmaprs777099958
1000 genomesrs777099958
hgdprs777099958
ensemblrs777099958
gopubmedrs777099958
geneviewrs777099958
scholarrs777099958
googlers777099958
pharmgkbrs777099958
gwascentralrs777099958
openSNPrs777099958
23andMers777099958
23andMe allrs777099958
SNP Nexus

SNPshotrs777099958
SNPdbers777099958
MSV3drs777099958
GWAS Ctlgrs777099958
Max Magnitude0
ClinVar
Risk rs777099958(C;C)
Alt rs777099958(C;C)
Reference Rs777099958(;)
Significance Pathogenic
Disease GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
Variation info
Gene FTCD
CLNDBN GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
Reversed 0
HGVS NC_000021.8:g.47558499dupC
CLNSRC
CLNACC RCV000174355.1,