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rs121908325

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908325(C;T)
Make rs121908325(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position25557214
GeneLDLRAP1
is asnp
is mentioned by
dbSNPrs121908325
ebirs121908325
HLIrs121908325
Exacrs121908325
Varsomers121908325
Maprs121908325
PheGenIrs121908325
hapmaprs121908325
1000 genomesrs121908325
hgdprs121908325
ensemblrs121908325
gopubmedrs121908325
geneviewrs121908325
scholarrs121908325
googlers121908325
pharmgkbrs121908325
gwascentralrs121908325
openSNPrs121908325
23andMers121908325
23andMe allrs121908325
SNP Nexus

SNPshotrs121908325
SNPdbers121908325
MSV3drs121908325
GWAS Ctlgrs121908325
Max Magnitude0
OMIM605747
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908325(T;T)
Alt rs121908325(T;T)
Reference rs121908325(C;C)
Significance Pathogenic
Disease Hypercholesterolemia
Variation info
Gene LDLRAP1
CLNDBN Hypercholesterolemia, autosomal recessive
Reversed 0
HGVS NC_000001.10:g.25883705C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005041.3,