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: rs143558304
rs143558304
TPM4
2 19 16102887 3 prime UTR variant -/A delins 4.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs75140056
rs75140056 		1 6 29640407 upstream gene variant -/A;AT ins 0.60 0.700 1.000 1 2016 2016
dbSNP: rs11471957
rs11471957
TUBB1
2 20 59023277 intron variant -/AA ins 0.700 1.000 1 2016 2016
dbSNP: rs111350029
rs111350029
PIEZO1 ; LOC100289580
1 16 88730362 intron variant -/AGGCGG delins 0.700 1.000 1 2016 2016
dbSNP: rs3840870
rs3840870
COL1A1
13 17 50184820 3 prime UTR variant -/CTTG delins 0.700 1.000 1 2019 2019
dbSNP: rs11446839
rs11446839 		1 9 38198231 intergenic variant -/G delins 0.48 0.700 1.000 1 2016 2016
dbSNP: rs10661645
rs10661645
NAA25
1 12 112086916 intron variant -/GAG;GGAG delins 0.95 0.700 1.000 1 2016 2016
dbSNP: rs10654220
rs10654220
MPHOSPH9
2 1.000 0.040 12 123218875 intron variant -/TGT;TGTTGT delins 0.700 1.000 1 2016 2016
dbSNP: rs11294619
rs11294619
PAK2
1 3 196784238 intron variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs56318916
rs56318916
DOCK8
2 9 329344 intron variant A/- del 0.22 0.700 1.000 1 2016 2016
dbSNP: rs11405616
rs11405616
NDFIP1
4 5 142130697 intron variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs10820606
rs10820606 		2 9 96430637 intergenic variant A/C snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs112790992
rs112790992
BRF1
1 14 105291880 intron variant A/C snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs1331308
rs1331308
HBS1L
2 6 135083984 intron variant A/C snv 0.61 0.700 1.000 1 2016 2016
dbSNP: rs2365726
rs2365726
PTPRH
1 19 55186797 intron variant A/C snv 0.43 0.700 1.000 1 2018 2018
dbSNP: rs36109901
rs36109901
CBL
1 11 119212608 intron variant A/C snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs4731120
rs4731120
HYAL4
1 7 123771169 intergenic variant A/C snv 6.5E-02 0.800 1.000 1 2011 2011
dbSNP: rs7146395
rs7146395
YLPM1
1 14 74761944 upstream gene variant A/C snv 0.68 0.700 1.000 1 2016 2016
dbSNP: rs75080135
rs75080135
GGNBP1
1 6 33584930 intron variant A/C snv 0.17 0.700 1.000 1 2016 2016
dbSNP: rs7856073
rs7856073 		1 9 4891797 intergenic variant A/C snv 0.49 0.700 1.000 1 2018 2018
dbSNP: rs80012730
rs80012730 		2 12 49277876 upstream gene variant A/C snv 6.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs9974653
rs9974653
LOC105372804
1 21 39369920 downstream gene variant A/C snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs4326844
rs4326844
COPZ1
1 12 54342686 intron variant A/C;G snv 0.68 0.800 1.000 2 2013 2019
dbSNP: rs112505971
rs112505971
ANKRD26
13 10 27068541 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs141759085
rs141759085
RAB11FIP3
1 16 480967 intron variant A/C;G snv 0.25 0.700 1.000 1 2016 2016