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rs199422220

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422220(A;A)
Make rs199422220(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position99608827
GeneMTTP
is asnp
is mentioned by
dbSNPrs199422220
dbSNP (classic)rs199422220
ClinGenrs199422220
ebirs199422220
HLIrs199422220
Exacrs199422220
Gnomadrs199422220
Varsomers199422220
LitVarrs199422220
Maprs199422220
PheGenIrs199422220
Biobankrs199422220
1000 genomesrs199422220
hgdprs199422220
ensemblrs199422220
geneviewrs199422220
scholarrs199422220
googlers199422220
pharmgkbrs199422220
gwascentralrs199422220
openSNPrs199422220
23andMers199422220
SNPshotrs199422220
SNPdbers199422220
MSV3drs199422220
GWAS Ctlgrs199422220
Max Magnitude0
ClinVar
Risk rs199422220(A;A)
Alt rs199422220(A;A)
Reference Rs199422220(G;G)
Significance Pathogenic
Disease Abetalipoproteinaemia
Variation info
Gene MTTP
CLNDBN Abetalipoproteinaemia
Reversed 0
HGVS NC_000004.11:g.100529984G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015306.25,