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rs80358195

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs80358195(G;T)
Make rs80358195(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position23848671
GeneFUCA1
is asnp
is mentioned by
dbSNPrs80358195
ebirs80358195
HLIrs80358195
Exacrs80358195
Varsomers80358195
Maprs80358195
PheGenIrs80358195
hapmaprs80358195
1000 genomesrs80358195
hgdprs80358195
ensemblrs80358195
gopubmedrs80358195
geneviewrs80358195
scholarrs80358195
googlers80358195
pharmgkbrs80358195
gwascentralrs80358195
openSNPrs80358195
23andMers80358195
23andMe allrs80358195
SNP Nexus

SNPshotrs80358195
SNPdbers80358195
MSV3drs80358195
GWAS Ctlgrs80358195
Max Magnitude0
OMIM612280
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80358195(C,T;C,T)
Alt rs80358195(C,T;C,T)
Reference rs80358195(G;G)
Significance Pathogenic
Disease Fucosidosis
Variation info
Gene FUCA1
CLNDBN Fucosidosis
Reversed 1
HGVS NC_000001.10:g.24175161C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000718.2,