Source: BEFREE

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: rs3812111
rs3812111
COL10A1 ; NT5DC1
1.000 0.040 6 116122572 intron variant T/A snv 0.47
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.810 1.000 1 2013 2019
dbSNP: rs1064583
rs1064583
COL10A1 ; NT5DC1
0.925 0.040 6 116125413 missense variant A/C;G snv 0.37
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2019 2019
dbSNP: rs111033548
rs111033548
COL10A1 ; NT5DC1
0.925 0.080 6 116120220 stop gained G/T snv
CUI: C0265290
Disease: Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia 		0.010 1.000 1 2018 2018
dbSNP: rs111033552
rs111033552
COL10A1 ; NT5DC1
0.925 0.120 6 116120105 missense variant A/G snv
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.010 1.000 1 2018 2018
dbSNP: rs111033553
rs111033553
COL10A1 ; NT5DC1
0.925 0.080 6 116120332 missense variant C/T snv
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.010 1.000 1 1998 1998
dbSNP: rs11965969
rs11965969
COL10A1 ; NT5DC1
1.000 0.040 6 116131040 intron variant T/G snv 0.50
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2010 2010
dbSNP: rs1204828
rs1204828
NT5DC1
1.000 0.080 6 116244975 3 prime UTR variant A/C;G snv
CUI: C4285693
Disease: HIV-associated neurocognitive disorder
HIV-associated neurocognitive disorder 		0.010 1.000 1 2013 2013
dbSNP: rs142463796
rs142463796
COL10A1 ; NT5DC1
1.000 0.040 6 116121734 missense variant C/T snv 6.8E-03 2.2E-03
CUI: C2745963
Disease: Kashin-Beck Disease
Kashin-Beck Disease 		0.010 1.000 1 2017 2017
dbSNP: rs2228547
rs2228547
COL10A1 ; NT5DC1
1.000 0.040 6 116120483 missense variant C/A;G snv 1.2E-05; 0.14
CUI: C2745963
Disease: Kashin-Beck Disease
Kashin-Beck Disease 		0.010 1.000 1 2017 2017
dbSNP: rs568725
rs568725
NT5DC1
1.000 0.040 6 116109640 intron variant G/A snv 0.60
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		0.010 1.000 1 2011 2011