rs28941768

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs28941768(C;T)

Make rs28941768(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

46151945

Gene

FTCD

is a	snp
is	mentioned by
dbSNP	rs28941768
dbSNP (classic)	rs28941768
ClinGen	rs28941768
ebi	rs28941768
HLI	rs28941768
Exac	rs28941768
Gnomad	rs28941768
Varsome	rs28941768
LitVar	rs28941768
Map	rs28941768
PheGenI	rs28941768
Biobank	rs28941768
1000 genomes	rs28941768
hgdp	rs28941768
ensembl	rs28941768
geneview	rs28941768
scholar	rs28941768
google	rs28941768
pharmgkb	rs28941768
gwascentral	rs28941768
openSNP	rs28941768
23andMe	rs28941768
SNPshot	rs28941768
SNPdbe	rs28941768
MSV3d	rs28941768
GWAS Ctlg	rs28941768

Max Magnitude

0

OMIM	606806
Desc	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
Variant	0001
Related	also

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 UniProtKB (protein)
CLNACC	RCV000004232.4,