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rs749968109

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs749968109(C;T)
Make rs749968109(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position53092502
GeneRFT1
is asnp
is mentioned by
dbSNPrs749968109
ebirs749968109
HLIrs749968109
Exacrs749968109
Varsomers749968109
Maprs749968109
PheGenIrs749968109
hapmaprs749968109
1000 genomesrs749968109
hgdprs749968109
ensemblrs749968109
gopubmedrs749968109
geneviewrs749968109
scholarrs749968109
googlers749968109
pharmgkbrs749968109
gwascentralrs749968109
openSNPrs749968109
23andMers749968109
23andMe allrs749968109
SNP Nexus

SNPshotrs749968109
SNPdbers749968109
MSV3drs749968109
GWAS Ctlgrs749968109
Max Magnitude0
ClinVar
Risk rs749968109(T;T)
Alt rs749968109(T;T)
Reference rs749968109(C;C)
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.53126518C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190251.2,