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: rs6557013
rs6557013
LINC02234
1 1.000 0.040 5 97871838 intron variant T/A snv 0.97 0.700 1.000 1 2018 2018
dbSNP: rs12923310
rs12923310 		1 1.000 0.040 16 9694080 intergenic variant G/T snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs11409738
rs11409738
DYNC1I1
1 1.000 0.040 7 96090522 intron variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs2626053
rs2626053
UNC5C
1 1.000 0.040 4 95333937 intron variant G/A snv 0.16 0.700 1.000 1 2012 2012
dbSNP: rs2171126
rs2171126
CRADD
1 1.000 0.040 12 93773444 intron variant C/T snv 0.49 0.700 1.000 1 2019 2019
dbSNP: rs787640
rs787640
MYOF
1 1.000 0.040 10 93364916 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs614332
rs614332 		1 1.000 0.040 11 93101032 intergenic variant C/T snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs13301537
rs13301537
ASPN ; CENPP
2 0.925 0.040 9 92466765 intron variant A/G snv 0.38 0.010 1.000 1 2013 2013
dbSNP: rs330050
rs330050 		1 1.000 0.040 8 9230169 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs150365637
rs150365637 		1 1.000 0.040 8 9222261 intron variant -/T delins 0.13 0.700 1.000 1 2018 2018
dbSNP: rs12885713
rs12885713
CALM1
5 0.827 0.200 14 90397013 intron variant C/A;G;T snv 0.030 0.333 3 2008 2018
dbSNP: rs200818100
rs200818100
RIPK2
1 1.000 0.040 8 89762965 missense variant A/C;G snv 4.7E-04 4.2E-04 0.010 1.000 1 2018 2018
dbSNP: rs1126464
rs1126464
DPEP1
4 1.000 0.040 16 89637957 missense variant G/A;C snv 1.3E-05; 0.26 0.700 1.000 1 2019 2019
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
30 0.649 0.280 10 88989499 intron variant G/A;T snv 0.15 0.010 1.000 1 2018 2018
dbSNP: rs1876836
rs1876836
MFHAS1
1 1.000 0.040 8 8824246 intron variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs3830675
rs3830675
PTEN
3 1.000 0.040 10 87931195 intron variant -/TCTTA delins 0.010 1.000 1 2019 2019
dbSNP: rs1404866
rs1404866
LOC102724680
1 1.000 0.040 12 84970700 intergenic variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs225014
rs225014
DIO2
22 0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39 0.010 1.000 1 2012 2012
dbSNP: rs2979715
rs2979715
STMN2
1 1.000 0.040 8 79650024 intron variant C/T snv 0.77 0.700 1.000 1 2012 2012
dbSNP: rs80057746
rs80057746 		1 1.000 0.040 4 78701519 intergenic variant C/T snv 1.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs11107957
rs11107957
NAV3
1 1.000 0.040 12 78038275 intron variant A/C snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs1149620
rs1149620
TSKU
1 1.000 0.040 11 76795528 intron variant T/A snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs10401670
rs10401670
MCEMP1
1 1.000 0.040 19 7677916 intron variant T/C;G snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs769389061
rs769389061
RETN
2 0.925 0.120 19 7670321 missense variant G/A;C snv 0.010 1.000 1 2019 2019