Have questions? Visit https://www.reddit.com/r/SNPedia

rs137854497

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854497(C;T)
Make rs137854497(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position104804668
GeneABCA1
is asnp
is mentioned by
dbSNPrs137854497
dbSNP (classic)rs137854497
ClinGenrs137854497
ebirs137854497
HLIrs137854497
Exacrs137854497
Gnomadrs137854497
Varsomers137854497
LitVarrs137854497
Maprs137854497
PheGenIrs137854497
Biobankrs137854497
1000 genomesrs137854497
hgdprs137854497
ensemblrs137854497
geneviewrs137854497
scholarrs137854497
googlers137854497
pharmgkbrs137854497
gwascentralrs137854497
openSNPrs137854497
23andMers137854497
SNPshotrs137854497
SNPdbers137854497
MSV3drs137854497
GWAS Ctlgrs137854497
Max Magnitude0
OMIM600046
Desc
Variant0013
Relatedalso
ClinVar
Risk rs137854497(T;T)
Alt rs137854497(T;T)
Reference Rs137854497(C;C)
Significance Pathogenic
Disease Tangier disease
Variation info
Gene ABCA1
CLNDBN Tangier disease
Reversed 1
HGVS NC_000009.11:g.107566949G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010104.3,