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rs104894297

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894297(A;C)
Make rs104894297(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position121303512
GeneSC5D
is asnp
is mentioned by
dbSNPrs104894297
ebirs104894297
HLIrs104894297
Exacrs104894297
Varsomers104894297
Maprs104894297
PheGenIrs104894297
hapmaprs104894297
1000 genomesrs104894297
hgdprs104894297
ensemblrs104894297
gopubmedrs104894297
geneviewrs104894297
scholarrs104894297
googlers104894297
pharmgkbrs104894297
gwascentralrs104894297
openSNPrs104894297
23andMers104894297
23andMe allrs104894297
SNP Nexus

SNPshotrs104894297
SNPdbers104894297
MSV3drs104894297
GWAS Ctlgrs104894297
Max Magnitude0
OMIM602286
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894297(C;C)
Alt rs104894297(C;C)
Reference rs104894297(A;A)
Significance Pathogenic
Disease Lathosterolosis
Variation info
Gene SC5D
CLNDBN Lathosterolosis
Reversed 0
HGVS NC_000011.9:g.121174221A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000007781.2,