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: 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: 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: rs16942341
rs16942341
ACAN
15 88845674 synonymous variant C/T snv 3.8E-02 6.4E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2010 2019
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: 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: rs35148461
rs35148461
ACAN
15 88870012 intron variant T/C snv 0.27
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2017 2019
dbSNP: rs8041863
rs8041863
ACAN
15 88816458 intron variant T/A;G snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2008 2019
dbSNP: rs8042988
rs8042988
ACAN
15 88869048 intron variant A/G snv 0.43
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2014 2019
dbSNP: rs11630187
rs11630187
ACAN
15 88844673 intron variant A/G snv 0.78
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs11633371
rs11633371
ACAN
15 88813601 intron variant G/T snv 0.53
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
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: 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
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: rs16942341
rs16942341
ACAN
15 88845674 synonymous variant C/T snv 3.8E-02 6.4E-02
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.700 1.000 1 2019 2019
dbSNP: rs1879529
rs1879529
ACAN
15 88871064 intron variant G/T snv 0.28
CUI: C0037369
Disease: Smoking
Smoking 		0.700 1.000 1 2017 2017
dbSNP: rs1879529
rs1879529
ACAN
15 88871064 intron variant G/T snv 0.28
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		0.700 1.000 1 2017 2017
dbSNP: rs1879529
rs1879529
ACAN
15 88871064 intron variant G/T snv 0.28
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
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: 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