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rs199422219

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422219(C;T)
Make rs199422219(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position99611156
GeneMTTP
is asnp
is mentioned by
dbSNPrs199422219
dbSNP (classic)rs199422219
ClinGenrs199422219
ebirs199422219
HLIrs199422219
Exacrs199422219
Gnomadrs199422219
Varsomers199422219
LitVarrs199422219
Maprs199422219
PheGenIrs199422219
Biobankrs199422219
1000 genomesrs199422219
hgdprs199422219
ensemblrs199422219
geneviewrs199422219
scholarrs199422219
googlers199422219
pharmgkbrs199422219
gwascentralrs199422219
openSNPrs199422219
23andMers199422219
SNPshotrs199422219
SNPdbers199422219
MSV3drs199422219
GWAS Ctlgrs199422219
Max Magnitude0
ClinVar
Risk rs199422219(T;T)
Alt rs199422219(T;T)
Reference Rs199422219(C;C)
Significance Pathogenic
Disease Abetalipoproteinaemia
Variation info
Gene MTTP
CLNDBN Abetalipoproteinaemia
Reversed 0
HGVS NC_000004.11:g.100532313C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015303.22,