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rs121917999

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917999(A;A)
Make rs121917999(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position94418528
GeneABCD3
is asnp
is mentioned by
dbSNPrs121917999
ebirs121917999
HLIrs121917999
Exacrs121917999
Varsomers121917999
Maprs121917999
PheGenIrs121917999
hapmaprs121917999
1000 genomesrs121917999
hgdprs121917999
ensemblrs121917999
gopubmedrs121917999
geneviewrs121917999
scholarrs121917999
googlers121917999
pharmgkbrs121917999
gwascentralrs121917999
openSNPrs121917999
23andMers121917999
23andMe allrs121917999
SNP Nexus

SNPshotrs121917999
SNPdbers121917999
MSV3drs121917999
GWAS Ctlgrs121917999
Max Magnitude0
OMIM170995
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121917999(A;A)
Alt rs121917999(A;A)
Reference rs121917999(G;G)
Significance Pathogenic
Disease Zellweger syndrome 2
Variation info
Gene ABCD3
CLNDBN Zellweger syndrome 2
Reversed 0
HGVS NC_000001.10:g.94884084G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030895.3,