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rs118204450

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204450(C;T)
Make rs118204450(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position23845837
GeneFUCA1
is asnp
is mentioned by
dbSNPrs118204450
ebirs118204450
HLIrs118204450
Exacrs118204450
Varsomers118204450
Maprs118204450
PheGenIrs118204450
hapmaprs118204450
1000 genomesrs118204450
hgdprs118204450
ensemblrs118204450
gopubmedrs118204450
geneviewrs118204450
scholarrs118204450
googlers118204450
pharmgkbrs118204450
gwascentralrs118204450
openSNPrs118204450
23andMers118204450
23andMe allrs118204450
SNP Nexus

SNPshotrs118204450
SNPdbers118204450
MSV3drs118204450
GWAS Ctlgrs118204450
Max Magnitude0
OMIM612280
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118204450(T;T)
Alt rs118204450(T;T)
Reference rs118204450(C;C)
Significance Pathogenic
Disease Fucosidosis
Variation info
Gene FUCA1
CLNDBN Fucosidosis
Reversed 1
HGVS NC_000001.10:g.24172327G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000716.2,