Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11045000
rs11045000
LINC02398
1 1.000 0.080 12 20031212 intron variant G/A snv 0.17 0.700 1.000 1 2014 2014
dbSNP: rs13279799
rs13279799 		1 1.000 0.080 8 116529369 intergenic variant T/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs1979679
rs1979679
CCDC91
1 1.000 0.080 12 28253582 intron variant T/C snv 0.24 0.700 1.000 1 2014 2014
dbSNP: rs2423294
rs2423294 		1 1.000 0.080 20 7839121 intergenic variant G/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs374810
rs374810
RSPO2
1 1.000 0.080 8 108083801 upstream gene variant G/A snv 0.39 0.700 1.000 1 2014 2014
dbSNP: rs927485
rs927485 		1 1.000 0.080 6 44570402 regulatory region variant G/A snv 0.59 0.700 1.000 1 2014 2014
dbSNP: rs190947144
rs190947144
ENPP1
1 1.000 0.080 6 131860451 missense variant C/T snv 3.8E-04 3.1E-04 0.700 0
dbSNP: rs2273073
rs2273073
BMP2
3 0.882 0.120 20 6770235 missense variant T/C;G snv 2.4E-02 0.010 < 0.001 1 2008 2008
dbSNP: rs6908650
rs6908650
RUNX2
1 1.000 0.080 6 45390370 intron variant G/A snv 0.42 0.010 1.000 1 2017 2017