Have questions? Visit https://www.reddit.com/r/SNPedia

rs80358197

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs80358197(A;A)
Make rs80358197(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position23848649
GeneFUCA1
is asnp
is mentioned by
dbSNPrs80358197
ebirs80358197
HLIrs80358197
Exacrs80358197
Varsomers80358197
Maprs80358197
PheGenIrs80358197
hapmaprs80358197
1000 genomesrs80358197
hgdprs80358197
ensemblrs80358197
gopubmedrs80358197
geneviewrs80358197
scholarrs80358197
googlers80358197
pharmgkbrs80358197
gwascentralrs80358197
openSNPrs80358197
23andMers80358197
23andMe allrs80358197
SNP Nexus

SNPshotrs80358197
SNPdbers80358197
MSV3drs80358197
GWAS Ctlgrs80358197
Max Magnitude0
OMIM612280
Desc
Variant0006
Relatedalso
ClinVar
Risk rs80358197(A;A)
Alt rs80358197(A;A)
Reference rs80358197(G;G)
Significance Pathogenic
Disease Fucosidosis
Variation info
Gene FUCA1
CLNDBN Fucosidosis
Reversed 1
HGVS NC_000001.10:g.24175139C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000721.2,