Source: CURATED

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: rs7605378
rs7605378
FTCDNL1
0.925 0.120 2 199812203 intron variant A/C snv 0.64
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.830 1.000 1 2011 2015
dbSNP: rs2278729
rs2278729
TBC1D8
1.000 0.080 2 101052395 intron variant G/A snv 0.25
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.810 1.000 1 2010 2017
dbSNP: rs12151790
rs12151790 		1.000 0.080 2 234302083 regulatory region variant G/A snv 0.13
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.800 1.000 1 2010 2010
dbSNP: rs12808199
rs12808199 		1.000 0.080 11 39306409 intergenic variant G/A snv 0.47
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.800 1.000 1 2010 2010
dbSNP: rs13182402
rs13182402
ALDH7A1
0.925 0.160 5 126582456 intron variant A/G snv 0.15
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.800 1.000 1 2010 2010
dbSNP: rs17184557
rs17184557
DOK6
1.000 0.080 18 69475621 intron variant T/A snv 0.19
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.800 1.000 1 2010 2010
dbSNP: rs2062375
rs2062375
COLEC10
1.000 0.080 8 118965553 intergenic variant G/C snv 0.65
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.800 1.000 1 2010 2010
dbSNP: rs494453
rs494453
RAP1A ; KRT18P57
1.000 0.080 1 111649500 non coding transcript exon variant T/C snv 0.41
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.800 1.000 1 2010 2010
dbSNP: rs7227401
rs7227401
OSBPL1A
1.000 0.080 18 24358694 intron variant T/G snv 0.69
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.800 1.000 1 2010 2010
dbSNP: rs784288
rs784288
MECOM
1.000 0.080 3 169253443 intron variant A/G;T snv
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.800 1.000 1 2013 2013
dbSNP: rs397514702
rs397514702
WNT1 ; WNT10B
1.000 0.080 12 48981179 missense variant T/G snv 4.9E-05 7.0E-06
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.740 1.000 2 2013 2019
dbSNP: rs11872467
rs11872467
RAB31
1.000 0.080 18 9848005 intron variant G/A snv 3.4E-02
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.700 1.000 1 2016 2016
dbSNP: rs12775980
rs12775980
SVIL
1.000 0.080 10 29570927 intron variant C/A;T snv
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.700 1.000 1 2016 2016
dbSNP: rs16965654
rs16965654
RPS16P8
1.000 0.080 17 27280666 non coding transcript exon variant G/A snv 1.6E-02
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.700 1.000 1 2010 2010
dbSNP: rs297325
rs297325
SOX6
0.925 0.120 11 16368048 intron variant T/C;G snv
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.700 1.000 1 2009 2009
dbSNP: rs4756846
rs4756846
SOX6
0.925 0.120 11 16381965 intron variant T/C snv 8.8E-02
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.700 1.000 1 2009 2009
dbSNP: rs387907359
rs387907359
WNT1 ; WNT10B
1.000 0.080 12 48981230 missense variant C/T snv
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.700 0