rs119469015

Orientation

minus

Stabilized

minus

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

Make rs119469015(C;C)

Make rs119469015(C;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

46150129

Gene

FTCD

is a	snp
is	mentioned by
dbSNP	rs119469015
dbSNP (classic)	rs119469015
ClinGen	rs119469015
ebi	rs119469015
HLI	rs119469015
Exac	rs119469015
Gnomad	rs119469015
Varsome	rs119469015
LitVar	rs119469015
Map	rs119469015
PheGenI	rs119469015
Biobank	rs119469015
1000 genomes	rs119469015
hgdp	rs119469015
ensembl	rs119469015
geneview	rs119469015
scholar	rs119469015
google	rs119469015
pharmgkb	rs119469015
gwascentral	rs119469015
openSNP	rs119469015
23andMe	rs119469015
SNPshot	rs119469015
SNPdbe	rs119469015
MSV3d	rs119469015
GWAS Ctlg	rs119469015

Max Magnitude

0

OMIM	606806
Desc
Variant	0002
Related	also

ClinVar
Risk	rs119469015(A;A) rs119469015(C;C)
Alt	rs119469015(A;A) rs119469015(C;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 UniProtKB (protein)
CLNACC	RCV000004233.3,