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: rs13103813
rs13103813
DOK7
1 4 3466709 intron variant A/C snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs6438720
rs6438720 		2 3 122298385 TF binding site variant A/C snv 0.60 0.700 1.000 1 2010 2010
dbSNP: rs12901379
rs12901379 		1 15 50692447 downstream gene variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs17251221
rs17251221
CASR
18 0.724 0.360 3 122274400 intron variant A/G snv 0.11 0.800 1.000 2 2010 2017
dbSNP: rs12517041
rs12517041 		1 5 23301799 downstream gene variant A/G snv 0.15 0.700 1.000 1 2015 2015
dbSNP: rs1472621
rs1472621 		2 3 122293879 downstream gene variant A/G snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs1570669
rs1570669
CYP24A1
4 0.925 0.080 20 54157888 intron variant A/G snv 0.42 0.800 1.000 1 2013 2013
dbSNP: rs17265703
rs17265703
CSTA
4 3 122329797 intron variant A/G snv 0.12 0.700 1.000 1 2010 2010
dbSNP: rs3750996
rs3750996
STIM1
2 1.000 0.040 11 4091970 3 prime UTR variant A/G snv 7.7E-03 0.700 1.000 1 2018 2018
dbSNP: rs4678176
rs4678176
CASR
1 3 122290328 3 prime UTR variant A/G snv 9.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs6123359
rs6123359 		2 1.000 0.080 20 54098167 regulatory region variant A/G snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs9851884
rs9851884 		2 3 122301347 regulatory region variant A/G snv 0.66 0.700 1.000 1 2010 2010
dbSNP: rs11918240
rs11918240
CASR
1 3 122226991 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs16833078
rs16833078
CCDC58
2 3 122380747 intron variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs3792289
rs3792289
CASR
2 3 122274753 intron variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs12635478
rs12635478
CASR
2 3 122289706 3 prime UTR variant C/A snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs17201246
rs17201246
KPNA1 ; LOC102723582
2 3 122426623 3 prime UTR variant C/A snv 0.13 0.700 1.000 1 2010 2010
dbSNP: rs16833168
rs16833168
PARP9 ; LOC105374071
2 3 122535800 3 prime UTR variant C/A;G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs13085498
rs13085498 		2 3 122292516 downstream gene variant C/A;T snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs16833080
rs16833080
CCDC58
2 3 122382060 intron variant C/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs13068893
rs13068893 		1 3 122307242 regulatory region variant C/G snv 8.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs1550532
rs1550532
DGKD
4 2 233356202 intron variant C/G snv 0.75 0.800 1.000 1 2013 2013
dbSNP: rs10491003
rs10491003
LINC00709 ; LOC101928272
2 10 9286688 non coding transcript exon variant C/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs12150338
rs12150338
WDR81
2 17 1730810 synonymous variant C/G;T snv 4.0E-06; 0.12 0.800 1.000 1 2010 2010
dbSNP: rs16832956
rs16832956 		2 3 122298661 regulatory region variant C/G;T snv 0.19 0.700 1.000 1 2010 2010