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rs772820136

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs772820136(A;G)
Make rs772820136(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position53105743
GeneRFT1
is asnp
is mentioned by
dbSNPrs772820136
ebirs772820136
HLIrs772820136
Exacrs772820136
Varsomers772820136
Maprs772820136
PheGenIrs772820136
hapmaprs772820136
1000 genomesrs772820136
hgdprs772820136
ensemblrs772820136
gopubmedrs772820136
geneviewrs772820136
scholarrs772820136
googlers772820136
pharmgkbrs772820136
gwascentralrs772820136
openSNPrs772820136
23andMers772820136
23andMe allrs772820136
SNP Nexus

SNPshotrs772820136
SNPdbers772820136
MSV3drs772820136
GWAS Ctlgrs772820136
Max Magnitude0
ClinVar
Risk rs772820136(G;G)
Alt rs772820136(G;G)
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,