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rs796053522

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs796053522(A;G)
Make rs796053522(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position53092605
GeneRFT1
is asnp
is mentioned by
dbSNPrs796053522
ebirs796053522
HLIrs796053522
Exacrs796053522
Varsomers796053522
Maprs796053522
PheGenIrs796053522
hapmaprs796053522
1000 genomesrs796053522
hgdprs796053522
ensemblrs796053522
gopubmedrs796053522
geneviewrs796053522
scholarrs796053522
googlers796053522
pharmgkbrs796053522
gwascentralrs796053522
openSNPrs796053522
23andMers796053522
23andMe allrs796053522
SNP Nexus

SNPshotrs796053522
SNPdbers796053522
MSV3drs796053522
GWAS Ctlgrs796053522
Max Magnitude0
ClinVar
Risk rs796053522(G;G)
Alt rs796053522(G;G)
Reference rs796053522(A;A)
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.53126621T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000190250.2,