Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28584580
rs28584580
ACAN
15 88854596 intron variant A/G snv 0.11
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs28584580
rs28584580
ACAN
15 88854596 intron variant A/G snv 0.11
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		0.700 1.000 1 2019 2019
dbSNP: rs3817428
rs3817428
ACAN
15 88872016 missense variant C/G snv 0.20 0.20
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		0.700 1.000 1 2019 2019
dbSNP: rs3817428
rs3817428
ACAN
15 88872016 missense variant C/G snv 0.20 0.20
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs3817428
rs3817428
ACAN
15 88872016 missense variant C/G snv 0.20 0.20
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2015 2015
dbSNP: rs4932200
rs4932200
ACAN
15 88806477 intron variant A/G;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs56071466
rs56071466
ACAN
15 88827235 intron variant G/A snv 0.50
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs56238630
rs56238630
ACAN
15 88842993 intron variant T/C snv 6.3E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs72765671
rs72765671
ACAN
15 88817911 intron variant A/G snv 0.10
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs8026235
rs8026235
ACAN
15 88806225 intron variant A/C snv 1.7E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs8041863
rs8041863
ACAN
15 88816458 intron variant T/A;G snv
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2008 2008
dbSNP: rs938609
rs938609
ACAN
15 88855400 missense variant T/A snv 0.51 0.52
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2011 2011
dbSNP: rs938614
rs938614
ACAN
15 88811655 intron variant T/A;C snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs1567185220
rs1567185220
ACAN
1.000 0.080 15 88856723 missense variant G/T snv
CUI: C2748544
Disease: Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Aggrecan Type 		0.700 0
dbSNP: rs1567186585
rs1567186585
ACAN
1.000 0.080 15 88857646 missense variant T/A snv
CUI: C2748544
Disease: Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Aggrecan Type 		0.700 0
dbSNP: rs779794758
rs779794758
ACAN
1.000 0.040 15 88872944 missense variant G/A snv 8.0E-06
CUI: C3665488
Disease: Familial Osteochondritis Dissecans
Familial Osteochondritis Dissecans 		0.700 0
dbSNP: rs1516794
rs1516794
ACAN
1.000 0.040 15 88861672 intron variant A/T snv 5.3E-03
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.020 1.000 2 2011 2014
dbSNP: rs3784757
rs3784757
ACAN
1.000 0.040 15 88860173 intron variant G/A snv 0.13
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.020 1.000 2 2011 2014
dbSNP: rs1042631
rs1042631
ACAN
1.000 0.040 15 88859008 synonymous variant T/A;C snv 0.73
CUI: C0263874
Disease: Degeneration of lumbar intervertebral disc
Degeneration of lumbar intervertebral disc 		0.010 1.000 1 2019 2019
dbSNP: rs1372399305
rs1372399305
ACAN
1.000 0.160 15 88847281 missense variant T/A;C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs1516797
rs1516797
ACAN
1.000 0.080 15 88867083 intron variant T/G snv 0.44
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		0.010 1.000 1 2014 2014