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rs199422222

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422222(G;T)
Make rs199422222(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position99608977
GeneMTTP
is asnp
is mentioned by
dbSNPrs199422222
dbSNP (classic)rs199422222
ClinGenrs199422222
ebirs199422222
HLIrs199422222
Exacrs199422222
Gnomadrs199422222
Varsomers199422222
LitVarrs199422222
Maprs199422222
PheGenIrs199422222
Biobankrs199422222
1000 genomesrs199422222
hgdprs199422222
ensemblrs199422222
geneviewrs199422222
scholarrs199422222
googlers199422222
pharmgkbrs199422222
gwascentralrs199422222
openSNPrs199422222
23andMers199422222
SNPshotrs199422222
SNPdbers199422222
MSV3drs199422222
GWAS Ctlgrs199422222
Max Magnitude0
ClinVar
Risk rs199422222(T;T)
Alt rs199422222(T;T)
Reference Rs199422222(G;G)
Significance Pathogenic
Disease Abetalipoproteinaemia
Variation info
Gene MTTP
CLNDBN Abetalipoproteinaemia
Reversed 0
HGVS NC_000004.11:g.100530134G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015309.21,