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rs80358199

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs80358199(G;G)
Make rs80358199(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position23846105
GeneFUCA1
is asnp
is mentioned by
dbSNPrs80358199
ebirs80358199
HLIrs80358199
Exacrs80358199
Varsomers80358199
Maprs80358199
PheGenIrs80358199
hapmaprs80358199
1000 genomesrs80358199
hgdprs80358199
ensemblrs80358199
gopubmedrs80358199
geneviewrs80358199
scholarrs80358199
googlers80358199
pharmgkbrs80358199
gwascentralrs80358199
openSNPrs80358199
23andMers80358199
23andMe allrs80358199
SNP Nexus

SNPshotrs80358199
SNPdbers80358199
MSV3drs80358199
GWAS Ctlgrs80358199
Max Magnitude0
OMIM612280
Desc
Variant0012
Relatedalso
ClinVar
Risk rs80358199(G;G)
Alt rs80358199(G;G)
Reference rs80358199(T;T)
Significance Pathogenic
Disease Fucosidosis
Variation info
Gene FUCA1
CLNDBN Fucosidosis
Reversed 1
HGVS NC_000001.10:g.24172595A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000727.2,