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rs200283734

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200283734(A;A)
Make rs200283734(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position46138593
GeneFTCD
is asnp
is mentioned by
dbSNPrs200283734
ebirs200283734
HLIrs200283734
Exacrs200283734
Varsomers200283734
Maprs200283734
PheGenIrs200283734
hapmaprs200283734
1000 genomesrs200283734
hgdprs200283734
ensemblrs200283734
gopubmedrs200283734
geneviewrs200283734
scholarrs200283734
googlers200283734
pharmgkbrs200283734
gwascentralrs200283734
openSNPrs200283734
23andMers200283734
23andMe allrs200283734
SNP Nexus

SNPshotrs200283734
SNPdbers200283734
MSV3drs200283734
GWAS Ctlgrs200283734
Max Magnitude0
ClinVar
Risk rs200283734(A;A)
Alt rs200283734(A;A)
Reference rs200283734(G;G)
Significance Probable-Pathogenic
Disease GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
Variation info
Gene FTCD
CLNDBN GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
Reversed 0
HGVS NC_000021.8:g.47558507G>A
CLNSRC Baylor College of Medicine
CLNACC RCV000191087.1,