LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Hypercholesterolemia result ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs139043155
rs139043155 		0.790 0.200 19 11106668 missense variant T/A snv 3.2E-05 4.2E-05
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 1.000 2 1992 1992
dbSNP: rs1057516127
rs1057516127 		0.925 0.080 19 11123200 stop gained G/T snv 7.0E-06
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0
dbSNP: rs1057519661
rs1057519661 		0.882 0.080 19 11105587 frameshift variant C/- del
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0
dbSNP: rs1057519665
rs1057519665 		1.000 0.080 19 11107510 splice donor variant GGTGAGTCTCGGTGC/- delins
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0
dbSNP: rs1057519669
rs1057519669 		0.925 0.080 19 11113347 missense variant A/G snv
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0
dbSNP: rs1057519670
rs1057519670 		0.925 0.080 19 11113406 missense variant A/T snv
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0
dbSNP: rs1057519673
rs1057519673 		0.925 0.080 19 11113705 frameshift variant C/- del
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0
dbSNP: rs1057519677
rs1057519677 		0.925 0.080 19 11120099 missense variant T/G snv
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0
dbSNP: rs1060499919
rs1060499919 		1.000 0.080 19 11105435 missense variant T/C snv
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0
dbSNP: rs1060499921
rs1060499921 		0.925 0.120 19 11111630 missense variant A/C snv
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0
dbSNP: rs1060499922
rs1060499922 		1.000 0.080 19 11111635 frameshift variant TG/- delins
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0
dbSNP: rs1060499923
rs1060499923 		0.925 0.120 19 11113295 frameshift variant TT/- del
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0
dbSNP: rs1060499924
rs1060499924 		1.000 0.080 19 11113454 splice region variant G/T snv
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0
dbSNP: rs1060499926
rs1060499926 		1.000 0.080 19 11116139 frameshift variant AG/- del
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0
dbSNP: rs1060499927
rs1060499927 		1.000 0.080 19 11116894 stop gained A/T snv
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0
dbSNP: rs1060499930
rs1060499930 		1.000 0.080 19 11129530 missense variant T/C snv
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0
dbSNP: rs1060499931
rs1060499931 		1.000 0.080 19 11105416 missense variant C/A snv
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0
dbSNP: rs1060499933
rs1060499933 		1.000 0.080 19 11110692 missense variant C/A;T snv 1.2E-05
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0
dbSNP: rs1060500986
rs1060500986 		1.000 0.080 19 11111628 missense variant G/A snv
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0
dbSNP: rs1064792905
rs1064792905 		0.925 0.080 19 11105587 inframe deletion AGGAAAACTGCG/- delins
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0
dbSNP: rs112029328
rs112029328 		0.882 0.080 19 11102787 splice donor variant G/A;C;T snv 2.8E-05; 4.0E-06; 4.0E-06; 4.0E-06
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0
dbSNP: rs1131692189
rs1131692189 		1.000 0.080 19 11100271 missense variant G/T snv
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0
dbSNP: rs1131692190
rs1131692190 		1.000 0.080 19 11100350 splice region variant G/A snv
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0
dbSNP: rs1131692191
rs1131692191 		1.000 0.080 19 11102724 frameshift variant -/CATTCTG ins
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0
dbSNP: rs1131692192
rs1131692192 		1.000 0.080 19 11105223 frameshift variant CAAGACGTGCTCCCAGGAC/- delins
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0