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rs1057516132

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;TTTCG) 5 Familial Hypercholesterolemia
(GTTTC;GTTTC) 0 common in clinvar
(TTTCG;TTTCG) 0 common/normal


Make rs1057516132(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position11105246
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057516132
dbSNP (old)rs1057516132
ClinGenrs1057516132
ebirs1057516132
HLIrs1057516132
Exacrs1057516132
Gnomadrs1057516132
Varsomers1057516132
Maprs1057516132
PheGenIrs1057516132
Biobankrs1057516132
1000 genomesrs1057516132
hgdprs1057516132
ensemblrs1057516132
gopubmedrs1057516132
geneviewrs1057516132
scholarrs1057516132
googlers1057516132
pharmgkbrs1057516132
gwascentralrs1057516132
openSNPrs1057516132
23andMers1057516132
23andMe allrs1057516132
SNPshotrs1057516132
SNPdbers1057516132
MSV3drs1057516132
GWAS Ctlgrs1057516132
Max Magnitude5
ClinVar
Risk rs1057516132(-;-)
Alt rs1057516132(-;-)
Reference Rs1057516132(GTTTC;GTTTC)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11215922_11215926delTTTCG
CLNSRC
CLNACC RCV000408757.1,