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rs796053521

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs796053521(A;A)
Make rs796053521(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position53105738
GeneRFT1
is asnp
is mentioned by
dbSNPrs796053521
ebirs796053521
HLIrs796053521
Exacrs796053521
Varsomers796053521
Maprs796053521
PheGenIrs796053521
hapmaprs796053521
1000 genomesrs796053521
hgdprs796053521
ensemblrs796053521
gopubmedrs796053521
geneviewrs796053521
scholarrs796053521
googlers796053521
pharmgkbrs796053521
gwascentralrs796053521
openSNPrs796053521
23andMers796053521
23andMe allrs796053521
SNP Nexus

SNPshotrs796053521
SNPdbers796053521
MSV3drs796053521
GWAS Ctlgrs796053521
Max Magnitude0
ClinVar
Risk rs796053521(A;A)
Alt rs796053521(A;A)
Reference rs796053521(G;G)
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.53139754C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190247.2,