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rs118203913

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203913(C;T)
Make rs118203913(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position53123791
GeneRFT1
is asnp
is mentioned by
dbSNPrs118203913
ebirs118203913
HLIrs118203913
Exacrs118203913
Varsomers118203913
Maprs118203913
PheGenIrs118203913
hapmaprs118203913
1000 genomesrs118203913
hgdprs118203913
ensemblrs118203913
gopubmedrs118203913
geneviewrs118203913
scholarrs118203913
googlers118203913
pharmgkbrs118203913
gwascentralrs118203913
openSNPrs118203913
23andMers118203913
23andMe allrs118203913
SNP Nexus

SNPshotrs118203913
SNPdbers118203913
MSV3drs118203913
GWAS Ctlgrs118203913
Max Magnitude0
OMIM611908
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118203913(T;T)
Alt rs118203913(T;T)
Reference rs118203913(C;C)
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.53157807G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000821.3,