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rs104894296

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894296(A;A)
Make rs104894296(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position121307244
GeneSC5D
is asnp
is mentioned by
dbSNPrs104894296
dbSNP (classic)rs104894296
ClinGenrs104894296
ebirs104894296
HLIrs104894296
Exacrs104894296
Gnomadrs104894296
Varsomers104894296
LitVarrs104894296
Maprs104894296
PheGenIrs104894296
Biobankrs104894296
1000 genomesrs104894296
hgdprs104894296
ensemblrs104894296
geneviewrs104894296
scholarrs104894296
googlers104894296
pharmgkbrs104894296
gwascentralrs104894296
openSNPrs104894296
23andMers104894296
SNPshotrs104894296
SNPdbers104894296
MSV3drs104894296
GWAS Ctlgrs104894296
Max Magnitude0
OMIM602286
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894296(A;A)
Alt rs104894296(A;A)
Reference Rs104894296(G;G)
Significance Pathogenic
Disease Lathosterolosis
Variation info
Gene SC5D
CLNDBN Lathosterolosis
Reversed 0
HGVS NC_000011.9:g.121177953G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007780.4,