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rs1057518647

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(CGGGGAC;CGGGGAC) 0 common in clinvar
Make rs1057518647(-;-)
Make rs1057518647(-;CGGGGAC)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position21019728
GeneAPOB
is asnp
is mentioned by
dbSNPrs1057518647
dbSNP (old)rs1057518647
ClinGenrs1057518647
ebirs1057518647
HLIrs1057518647
Exacrs1057518647
Gnomadrs1057518647
Varsomers1057518647
Maprs1057518647
PheGenIrs1057518647
Biobankrs1057518647
1000 genomesrs1057518647
hgdprs1057518647
ensemblrs1057518647
gopubmedrs1057518647
geneviewrs1057518647
scholarrs1057518647
googlers1057518647
pharmgkbrs1057518647
gwascentralrs1057518647
openSNPrs1057518647
23andMers1057518647
23andMe allrs1057518647
SNPshotrs1057518647
SNPdbers1057518647
MSV3drs1057518647
GWAS Ctlgrs1057518647
Max Magnitude0
ClinVar
Risk rs1057518647(-;-)
Alt rs1057518647(-;-)
Reference Rs1057518647(CGGGGAC;CGGGGAC)
Significance Pathogenic
Disease Hypobetalipoproteinemia
Variation info
Gene APOB
CLNDBN Hypobetalipoproteinemia, familial, 1
Reversed 1
HGVS NC_000002.11:g.21242600_21242606delGTCCCCG
CLNSRC
CLNACC RCV000415324.1,