rs749968109

Orientation

plus

Stabilized

plus

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

Make rs749968109(C;T)

Make rs749968109(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

3

Position

53092502

Gene

RFT1

is a	snp
is	mentioned by
dbSNP	rs749968109
dbSNP (classic)	rs749968109
ClinGen	rs749968109
ebi	rs749968109
HLI	rs749968109
Exac	rs749968109
Gnomad	rs749968109
Varsome	rs749968109
LitVar	rs749968109
Map	rs749968109
PheGenI	rs749968109
Biobank	rs749968109
1000 genomes	rs749968109
hgdp	rs749968109
ensembl	rs749968109
geneview	rs749968109
scholar	rs749968109
google	rs749968109
pharmgkb	rs749968109
gwascentral	rs749968109
openSNP	rs749968109
23andMe	rs749968109
SNPshot	rs749968109
SNPdbe	rs749968109
MSV3d	rs749968109
GWAS Ctlg	rs749968109

Max Magnitude

0

ClinVar
Risk	rs749968109(T;T)
Alt	rs749968109(T;T)
Reference	Rs749968109(C;C)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 1N
Variation	info
Gene	RFT1
CLNDBN	Congenital disorder of glycosylation type 1N
Reversed	0
HGVS	NC_000003.11:g.53126518C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000190251.2,