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rs119469015

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119469015(C;C)
Make rs119469015(C;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position46150129
GeneFTCD
is asnp
is mentioned by
dbSNPrs119469015
ebirs119469015
HLIrs119469015
Exacrs119469015
Varsomers119469015
Maprs119469015
PheGenIrs119469015
hapmaprs119469015
1000 genomesrs119469015
hgdprs119469015
ensemblrs119469015
gopubmedrs119469015
geneviewrs119469015
scholarrs119469015
googlers119469015
pharmgkbrs119469015
gwascentralrs119469015
openSNPrs119469015
23andMers119469015
23andMe allrs119469015
SNP Nexus

SNPshotrs119469015
SNPdbers119469015
MSV3drs119469015
GWAS Ctlgrs119469015
Max Magnitude0
OMIM606806
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119469015(A,C;A,C)
Alt rs119469015(A,C;A,C)
Reference rs119469015(G;G)
Significance Pathogenic
Disease GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
Variation info
Gene FTCD
CLNDBN GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
Reversed 1
HGVS NC_000021.8:g.47570043C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004233.3,