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rs281875379

From SNPedia

Merged intors587776762
Orientationplus
Stabilizedplus
Geno Mag Summary
(TTC;TTC) 0 common in clinvar
Make rs281875379(-;-)
Make rs281875379(-;TTC)
ReferenceGRCh38 38.1/141
Chromosome2
Position233760798
GeneUGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10
is asnp
is mentioned by
dbSNPrs281875379
dbSNP (classic)rs281875379
ClinGenrs281875379
ebirs281875379
HLIrs281875379
Exacrs281875379
Gnomadrs281875379
Varsomers281875379
LitVarrs281875379
Maprs281875379
PheGenIrs281875379
Biobankrs281875379
1000 genomesrs281875379
hgdprs281875379
ensemblrs281875379
geneviewrs281875379
scholarrs281875379
googlers281875379
pharmgkbrs281875379
gwascentralrs281875379
openSNPrs281875379
23andMers281875379
SNPshotrs281875379
SNPdbers281875379
MSV3drs281875379
GWAS Ctlgrs281875379
StatusMerged into rs587776762
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs281875379(TTC;TTC)
Significance Pathogenic
Disease Crigler Najjar syndrome
Variation info
Gene UGT1A5 UGT1A9 UGT1A3 UGT1A6 UGT1A4 UGT1A1 UGT1A8 UGT1A10 UGT1A7
CLNDBN Crigler Najjar syndrome, type 1
Reversed 0
HGVS NC_000002.11:g.234669444_234669446delTTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000013059.23,