rs118203913

Orientation

minus

Stabilized

minus

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

Make rs118203913(C;T)

Make rs118203913(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

53123791

Gene

RFT1

is a	snp
is	mentioned by
dbSNP	rs118203913
dbSNP (classic)	rs118203913
ClinGen	rs118203913
ebi	rs118203913
HLI	rs118203913
Exac	rs118203913
Gnomad	rs118203913
Varsome	rs118203913
LitVar	rs118203913
Map	rs118203913
PheGenI	rs118203913
Biobank	rs118203913
1000 genomes	rs118203913
hgdp	rs118203913
ensembl	rs118203913
geneview	rs118203913
scholar	rs118203913
google	rs118203913
pharmgkb	rs118203913
gwascentral	rs118203913
openSNP	rs118203913
23andMe	rs118203913
SNPshot	rs118203913
SNPdbe	rs118203913
MSV3d	rs118203913
GWAS Ctlg	rs118203913

Max Magnitude

0

OMIM	611908
Desc
Variant	0001
Related	also

ClinVar
Risk	rs118203913(T;T)
Alt	rs118203913(T;T)
Reference	Rs118203913(C;C)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 1N
Variation	info
Gene	RFT1
CLNDBN	Congenital disorder of glycosylation type 1N
Reversed	1
HGVS	NC_000003.11:g.53157807G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000821.3,