rs772820136

Orientation

plus

Stabilized

plus

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

Make rs772820136(A;G)

Make rs772820136(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

3

Position

53105743

Gene

RFT1

is a	snp
is	mentioned by
dbSNP	rs772820136
dbSNP (classic)	rs772820136
ClinGen	rs772820136
ebi	rs772820136
HLI	rs772820136
Exac	rs772820136
Gnomad	rs772820136
Varsome	rs772820136
LitVar	rs772820136
Map	rs772820136
PheGenI	rs772820136
Biobank	rs772820136
1000 genomes	rs772820136
hgdp	rs772820136
ensembl	rs772820136
geneview	rs772820136
scholar	rs772820136
google	rs772820136
pharmgkb	rs772820136
gwascentral	rs772820136
openSNP	rs772820136
23andMe	rs772820136
SNPshot	rs772820136
SNPdbe	rs772820136
MSV3d	rs772820136
GWAS Ctlg	rs772820136

Max Magnitude

0

ClinVar
Risk	rs772820136(C;C) rs772820136(G;G) rs772820136(T;T)
Alt	rs772820136(C;C) rs772820136(G;G) rs772820136(T;T)
Reference	Rs772820136(A;A)
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.53139759A>C; NC_000003.11:g.53139759A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000190249.2, RCV000190248.2,