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: 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: rs8041863
rs8041863
ACAN
15 88816458 intron variant T/A;G snv
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2008 2008
dbSNP: rs121913568
rs121913568
ACAN
1.000 0.080 15 88872038 missense variant G/A snv
CUI: C2748544
Disease: Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Aggrecan Type 		0.800 1.000 1 2009 2009
dbSNP: rs16942341
rs16942341
ACAN
15 88845674 synonymous variant C/T snv 3.8E-02 6.4E-02
CUI: C0489786
Disease: Height
Height 		0.700 1.000 2 2010 2011
dbSNP: rs2351491
rs2351491
ACAN
15 88854874 synonymous variant C/T snv 0.50 0.48
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2011 2011
dbSNP: rs2351491
rs2351491
ACAN
15 88854874 synonymous variant C/T snv 0.50 0.48
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2011 2011
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: rs11854545
rs11854545
ACAN
15 88825873 intron variant G/A;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11854545
rs11854545
ACAN
15 88825873 intron variant G/A;T snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs16942333
rs16942333
ACAN
15 88845033 intron variant A/G snv 3.3E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs16942333
rs16942333
ACAN
15 88845033 intron variant A/G snv 3.3E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs16942333
rs16942333
ACAN
15 88845033 intron variant A/G snv 3.3E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
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: rs2280470
rs2280470
ACAN
15 88852395 intron variant A/G snv 0.68
CUI: C0489786
Disease: Height
Height 		0.700 1.000 2 2010 2013
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: 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
dbSNP: rs2280470
rs2280470
ACAN
15 88852395 intron variant A/G snv 0.68
CUI: C0455806
Disease: Infant length
Infant length 		0.700 1.000 1 2015 2015
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: rs267604368
rs267604368
ACAN
1.000 15 88858712 stop gained G/A;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 1990 2017
dbSNP: rs267604368
rs267604368
ACAN
1.000 15 88858712 stop gained G/A;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 11 1990 2017
dbSNP: rs2280470
rs2280470
ACAN
15 88852395 intron variant A/G snv 0.68
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 4 2010 2017
dbSNP: rs16942323
rs16942323
ACAN
15 88840533 intron variant T/C snv 2.2E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017