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rs17855739

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs17855739(C;C)
Make rs17855739(C;T)
Make rs17855739(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position5831829
GeneFUT6
is asnp
is mentioned by
dbSNPrs17855739
ebirs17855739
HLIrs17855739
Exacrs17855739
Varsomers17855739
Maprs17855739
PheGenIrs17855739
hapmaprs17855739
1000 genomesrs17855739
hgdprs17855739
ensemblrs17855739
gopubmedrs17855739
geneviewrs17855739
scholarrs17855739
googlers17855739
pharmgkbrs17855739
gwascentralrs17855739
openSNPrs17855739
23andMers17855739
23andMe allrs17855739
SNP Nexus

SNPshotrs17855739
SNPdbers17855739
MSV3drs17855739
GWAS Ctlgrs17855739
GMAF0.1276
Max Magnitude0
OMIM136836
DescFUCOSYLTRANSFERASE-6 DEFICIENCY, PLASMA, INDONESIAN TYPE
Variant0001
Relatedalso


ClinVar
Risk rs17855739(A;A)
Alt rs17855739(A;A)
Reference rs17855739(G;G)
Significance Pathogenic
Disease Fucosyltransferase 6 deficiency
Variation info
Gene FUT6
CLNDBN Fucosyltransferase 6 deficiency
Reversed 1
HGVS NC_000019.9:g.5831840C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017626.27,



GET Evidence
FUT6-E247K
aa_change Glu247Lys
aa_change_short E247K
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.12758
summary