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rs3180383

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in complete genomics
Make rs3180383(A;A)
Make rs3180383(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position23796202
GeneGALE
is asnp
is mentioned by
dbSNPrs3180383
ebirs3180383
HLIrs3180383
Exacrs3180383
Varsomers3180383
Maprs3180383
PheGenIrs3180383
hapmaprs3180383
1000 genomesrs3180383
hgdprs3180383
ensemblrs3180383
gopubmedrs3180383
geneviewrs3180383
scholarrs3180383
googlers3180383
pharmgkbrs3180383
gwascentralrs3180383
openSNPrs3180383
23andMers3180383
23andMe allrs3180383
SNP Nexus

SNPshotrs3180383
SNPdbers3180383
MSV3drs3180383
GWAS Ctlgrs3180383
Max Magnitude0
OMIM606953
DescGALACTOSE EPIMERASE DEFICIENCY
Variant0006
Relatedalso
Neighborrs28940885
Distance19
Neighborrs28940884
Distance520
ClinVar
Risk rs3180383(A,T;A,T)
Alt rs3180383(A,T;A,T)
Reference rs3180383(G;G)
Significance Pathogenic
Disease UDPglucose-4-epimerase deficiency
Variation info
Gene GALE
CLNDBN UDPglucose-4-epimerase deficiency
Reversed 0
HGVS NC_000001.10:g.24122692G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003865.2,