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rs80358196

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs80358196(C;T)
Make rs80358196(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position23868043
GeneFUCA1
is asnp
is mentioned by
dbSNPrs80358196
ebirs80358196
HLIrs80358196
Exacrs80358196
Varsomers80358196
Maprs80358196
PheGenIrs80358196
hapmaprs80358196
1000 genomesrs80358196
hgdprs80358196
ensemblrs80358196
gopubmedrs80358196
geneviewrs80358196
scholarrs80358196
googlers80358196
pharmgkbrs80358196
gwascentralrs80358196
openSNPrs80358196
23andMers80358196
23andMe allrs80358196
SNP Nexus

SNPshotrs80358196
SNPdbers80358196
MSV3drs80358196
GWAS Ctlgrs80358196
Max Magnitude0
OMIM612280
Desc
Variant0005
Relatedalso
ClinVar
Risk rs80358196(T;T)
Alt rs80358196(T;T)
Reference rs80358196(C;C)
Significance Pathogenic
Disease Fucosidosis
Variation info
Gene FUCA1
CLNDBN Fucosidosis
Reversed 1
HGVS NC_000001.10:g.24194533G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000720.2,