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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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