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rs398124234

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398124234(-;-)
Make rs398124234(-;G)
Make rs398124234(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position46145925
GeneFTCD
is asnp
is mentioned by
dbSNPrs398124234
ebirs398124234
HLIrs398124234
Exacrs398124234
Varsomers398124234
Maprs398124234
PheGenIrs398124234
hapmaprs398124234
1000 genomesrs398124234
hgdprs398124234
ensemblrs398124234
gopubmedrs398124234
geneviewrs398124234
scholarrs398124234
googlers398124234
pharmgkbrs398124234
gwascentralrs398124234
openSNPrs398124234
23andMers398124234
23andMe allrs398124234
SNP Nexus

SNPshotrs398124234
SNPdbers398124234
MSV3drs398124234
GWAS Ctlgrs398124234
Max Magnitude0
ClinVar
Risk rs398124234(G;G)
Alt rs398124234(G;G)
Reference rs398124234(;)
Significance Pathogenic
Disease GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY not provided
Variation info
Gene FTCD
CLNDBN GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY not provided
Reversed 1
HGVS NC_000021.8:g.47565840dupC
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004234.6, RCV000081452.3,