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: rs11082304
rs11082304
CABLES1
6 18 23141009 intron variant G/C;T snv 0.800 1.000 4 2011 2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 3 2011 2016
dbSNP: rs6141
rs6141
THPO
4 0.925 0.080 3 184372478 3 prime UTR variant C/G;T snv 4.0E-06; 0.56 0.800 1.000 3 2010 2018
dbSNP: rs9494145
rs9494145 		11 0.925 0.080 6 135111414 intergenic variant T/A;C snv 0.700 1.000 3 2012 2019
dbSNP: rs10075570
rs10075570
RNF145
1 5 159172350 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1034566
rs1034566
ARVCF
1 22 19996754 intron variant C/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs10654220
rs10654220
MPHOSPH9
2 1.000 0.040 12 123218875 intron variant -/TGT;TGTTGT delins 0.700 1.000 1 2016 2016
dbSNP: rs11071720
rs11071720
TPM1 ; TPM1-AS
3 15 63049797 intron variant T/C;G snv 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: rs11142444
rs11142444
LOC101927086
1 9 70451220 intergenic variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11217191
rs11217191
CBL
1 11 119223937 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11240408
rs11240408 		1 1 205295408 intergenic variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs112505971
rs112505971
ANKRD26
13 10 27068541 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs11294619
rs11294619
PAK2
1 3 196784238 intron variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs11382616
rs11382616
RCOR1
1 14 102615129 intron variant C/-;CC;CCC;CCCC;CCCCC delins 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: rs11409581
rs11409581
TNPO1
1 5 72867171 intron variant AA/-;A;AAA;AAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs11438378
rs11438378
ABCC5
1 3 183960791 intron variant T/-;TT;TTT;TTTTT;TTTTTT;TTTTTTT delins 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: rs1155577
rs1155577
PDE5A
1 4 119528655 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11556924
rs11556924
ZC3HC1
21 0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 0.700 1.000 1 2016 2016
dbSNP: rs11628318
rs11628318 		1 14 102573750 regulatory region variant T/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs11653357
rs11653357
AP2B1
2 17 35596588 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs11757577
rs11757577
HBS1L
2 6 135070327 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1190545
rs1190545
TECPR2
1 14 102437842 intron variant G/A;C;T snv 0.700 1.000 1 2016 2016