Have questions? Visit https://www.reddit.com/r/SNPedia

rs763862849

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs763862849(C;C)
Make rs763862849(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position53122376
GeneRFT1
is asnp
is mentioned by
dbSNPrs763862849
ebirs763862849
HLIrs763862849
Exacrs763862849
Varsomers763862849
Maprs763862849
PheGenIrs763862849
hapmaprs763862849
1000 genomesrs763862849
hgdprs763862849
ensemblrs763862849
gopubmedrs763862849
geneviewrs763862849
scholarrs763862849
googlers763862849
pharmgkbrs763862849
gwascentralrs763862849
openSNPrs763862849
23andMers763862849
23andMe allrs763862849
SNP Nexus

SNPshotrs763862849
SNPdbers763862849
MSV3drs763862849
GWAS Ctlgrs763862849
Max Magnitude0
ClinVar
Risk rs763862849(C,G;C,G)
Alt rs763862849(C,G;C,G)
Reference rs763862849(T;T)
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.53156392T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000190246.2,