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: rs7786877
rs7786877 		3 7 100616392 downstream gene variant A/G snv 0.22 0.800 1.000 1 2009 2009
dbSNP: rs7385804
rs7385804
TFR2
14 0.851 0.120 7 100638347 intron variant C/A snv 0.65 0.700 1.000 2 2016 2017
dbSNP: rs4434553
rs4434553
TFR2
5 1.000 0.040 7 100642568 intron variant A/G snv 0.40 0.700 1.000 1 2012 2012
dbSNP: rs2075672
rs2075672
TFR2 ; ACTL6B
8 7 100642673 intron variant A/G snv 0.65 0.700 1.000 1 2017 2017
dbSNP: rs7383856
rs7383856
ACTL6B
1 7 100644788 intron variant G/A snv 4.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs116979562
rs116979562
EPHB4
2 7 100816525 intron variant G/A snv 1.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs6584485
rs6584485 		1 10 102177487 intergenic variant C/T snv 0.76 0.700 1.000 1 2016 2016
dbSNP: rs2290707
rs2290707
RRM2B ; UBR5-AS1
2 8 102239027 upstream gene variant C/A snv 2.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs4906190
rs4906190
ZNF839
1 14 102317171 upstream gene variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs4900538
rs4900538
LOC105370680
2 14 102527728 intergenic variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs2902548
rs2902548
SFXN2
1 10 102727625 intron variant C/T snv 0.18 0.20 0.700 1.000 1 2018 2018
dbSNP: rs200510190
rs200510190
CNNM2
2 10 103031838 intron variant C/- del 0.41 0.700 1.000 1 2016 2016
dbSNP: rs11160753
rs11160753 		1 14 103541163 downstream gene variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs7916093
rs7916093
LOC102724351
2 10 103958628 intergenic variant T/C snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs77926410
rs77926410
KLRC3
1 12 10415926 intron variant A/G snv 9.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs56287436
rs56287436
SLC12A7
2 5 1080019 intron variant G/A snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs4237579
rs4237579
C11orf65
1 11 108408474 intron variant A/G snv 0.54 0.700 1.000 1 2018 2018
dbSNP: rs7943203
rs7943203
POGLUT3
2 11 108473354 3 prime UTR variant G/A snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs9521017
rs9521017
MYO16
2 13 108766811 intron variant G/T snv 0.32 0.700 1.000 1 2016 2016
dbSNP: rs11153147
rs11153147
ARMC2
1 6 108982855 downstream gene variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs9487023
rs9487023
CCDC162P
8 6 109268801 intron variant A/G snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs9374080
rs9374080
CCDC162P
2 6 109295217 intron variant T/C snv 0.40 0.800 1.000 2 2009 2017
dbSNP: rs13191948
rs13191948
CCDC162P
2 6 109313396 intron variant C/T snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs11966072
rs11966072
CCDC162P
4 6 109313625 intron variant A/G snv 0.26 0.700 1.000 1 2010 2010
dbSNP: rs61358232
rs61358232 		2 13 109749719 downstream gene variant A/T snv 0.27 0.700 1.000 1 2016 2016