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: rs11968525
rs11968525
LOC105378085
1 1.000 0.040 6 159604175 intron variant G/A snv 0.24 0.010 1.000 1 2018 2018
dbSNP: rs1341239
rs1341239
PRL ; CASC15
8 0.776 0.360 6 22303975 intron variant A/C snv 0.65 0.010 1.000 1 2017 2017
dbSNP: rs1784418
rs1784418
MMP20 ; LOC101928477
4 0.851 0.080 11 102613665 intron variant C/A;T snv 0.41 0.010 1.000 1 2020 2020
dbSNP: rs2242070
rs2242070
FRZB
1 1.000 0.040 2 182842127 intron variant G/A snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs2287074
rs2287074
MMP2
4 0.851 0.120 16 55493201 synonymous variant G/A;C snv 0.39; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs243865
rs243865
MMP2
48 0.600 0.640 16 55477894 intron variant C/T snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs4970957
rs4970957
TUFT1 ; MIR554
2 0.925 0.040 1 151544912 intron variant A/G snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs5997096
rs5997096
TFIP11
2 0.925 0.040 22 26499991 intron variant T/C snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs7775
rs7775
FRZB
14 0.732 0.240 2 182834857 missense variant G/A;C;T snv 8.0E-05; 8.0E-02; 5.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs9288087
rs9288087
FRZB
1 1.000 0.040 2 182867309 upstream gene variant G/A snv 0.21 0.010 1.000 1 2018 2018