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: rs755104973
rs755104973
1.000 0.040 1 25553921 splice acceptor variant G/C snv 4.0E-06
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
Nutritional and Metabolic Diseases 0.700 1.000 4 2001 2004
dbSNP: rs781585299
rs781585299
1.000 0.040 1 25563135 frameshift variant -/C;CC delins 1.4E-05
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
Nutritional and Metabolic Diseases 0.700 1.000 4 2002 2012
dbSNP: rs121908325
rs121908325
1.000 0.040 1 25557214 stop gained C/T snv 7.0E-06
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
Nutritional and Metabolic Diseases 0.700 1.000 2 2001 2016
dbSNP: rs1201229554
rs1201229554
1.000 0.040 1 25543763 frameshift variant G/- delins 7.0E-06
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
Nutritional and Metabolic Diseases 0.700 1.000 1 2001 2001
dbSNP: rs386629678
rs386629678
1.000 0.040 1 25563141 missense variant TC/CA mnv
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1019504966
rs1019504966
1.000 0.040 1 25543699 start lost A/G snv 1.4E-05
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121908324
rs121908324
1.000 0.040 1 25543763 stop gained G/A;C;T snv
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
Nutritional and Metabolic Diseases 0.010 < 0.001 1 2011 2011