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rs28937579

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs28937579(A;G)
Make rs28937579(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position101371179
GeneBAAT
is asnp
is mentioned by
dbSNPrs28937579
dbSNP (classic)rs28937579
ClinGenrs28937579
ebirs28937579
HLIrs28937579
Exacrs28937579
Gnomadrs28937579
Varsomers28937579
LitVarrs28937579
Maprs28937579
PheGenIrs28937579
Biobankrs28937579
1000 genomesrs28937579
hgdprs28937579
ensemblrs28937579
geneviewrs28937579
scholarrs28937579
googlers28937579
pharmgkbrs28937579
gwascentralrs28937579
openSNPrs28937579
23andMers28937579
SNPshotrs28937579
SNPdbers28937579
MSV3drs28937579
GWAS Ctlgrs28937579
Max Magnitude0
OMIM602938
DescHYPERCHOLANEMIA, FAMILIAL
Variant0001
Relatedalso



ClinVar
Risk rs28937579(G;G)
Alt rs28937579(G;G)
Reference Rs28937579(A;A)
Significance Pathogenic
Disease Hypercholanemia
Variation info
Gene BAAT
CLNDBN Hypercholanemia, familial
Reversed 1
HGVS NC_000009.11:g.104133461T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007112.2,