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rs13551

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs13551(A;G)
Make rs13551(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position23854472
GeneFUCA1
is asnp
is mentioned by
dbSNPrs13551
ebirs13551
HLIrs13551
Exacrs13551
Varsomers13551
Maprs13551
PheGenIrs13551
hapmaprs13551
1000 genomesrs13551
hgdprs13551
ensemblrs13551
gopubmedrs13551
geneviewrs13551
scholarrs13551
googlers13551
pharmgkbrs13551
gwascentralrs13551
openSNPrs13551
23andMers13551
23andMe allrs13551
SNP Nexus

SNPshotrs13551
SNPdbers13551
MSV3drs13551
GWAS Ctlgrs13551
GMAF0.2511
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM230000
DescFU1/FU2 POLYMORPHISM
Variant0011
Relatedalso
OMIM612280
Desc
Variant0011
Relatedalso


ClinVar
Risk rs13551(G;G)
Alt rs13551(G;G)
Reference rs13551(A;A)
Significance Non-pathogenic
Disease FU1/FU2 POLYMORPHISM
Variation info
Gene FUCA1
CLNDBN FU1/FU2 POLYMORPHISM
Reversed 1
HGVS NC_000001.10:g.24180962T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000726.2,



GET Evidence
FUCA1-Q286R
aa_change Gln286Arg
aa_change_short Q286R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.263618
summary