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: rs2953013
rs2953013
NF1
2 0.925 0.040 17 31169325 intron variant C/A snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs302152
rs302152
HDAC9
1 1.000 0.040 7 18224045 intron variant A/T snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs34419890
rs34419890 		1 1.000 0.040 11 66734153 upstream gene variant T/C snv 4.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs34687269
rs34687269
ASTN2
1 1.000 0.040 9 116721853 intron variant A/T snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs3771501
rs3771501
TGFA
2 0.925 0.040 2 70490521 intron variant A/G snv 0.60 0.700 1.000 1 2018 2018
dbSNP: rs3774354
rs3774354
ITIH1
3 0.882 0.080 3 52783659 intron variant G/A snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs3774355
rs3774355
ITIH1
1 1.000 0.040 3 52783762 intron variant G/A snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs3821262
rs3821262
TGFA
2 0.925 0.040 2 70493874 intron variant A/G snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs3884606
rs3884606
FGF18
2 0.925 0.040 5 171444070 intron variant G/A snv 0.54 0.700 1.000 1 2019 2019
dbSNP: rs4144502
rs4144502
CRADD
2 0.925 0.040 12 93787552 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4338381
rs4338381
COL11A1
2 1.000 0.040 1 103107371 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs4630744
rs4630744
LTBP1
2 0.925 0.040 2 33236308 intron variant A/G snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs4733724
rs4733724
GSDMC
2 1.000 0.040 8 129711482 intron variant A/G snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs4765540
rs4765540
RFLNA ; ZNF664-RFLNA
1 1.000 0.040 12 124315096 3 prime UTR variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs4979341
rs4979341 		2 0.925 0.040 9 114143263 intergenic variant C/T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs532464664
rs532464664
CHADL
3 0.882 0.040 22 41238083 frameshift variant -/GCCCGCGC delins 4.8E-03 1.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs547181612
rs547181612
UQCC1
2 0.925 0.040 20 35371345 intron variant T/-;TT;TTT;TTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs60890741
rs60890741
GSDMC
1 1.000 0.040 8 129756257 intron variant -/A;AA delins 0.700 1.000 1 2019 2019
dbSNP: rs62063281
rs62063281
MAPT
1 1.000 0.040 17 45961419 intron variant A/G snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs62406718
rs62406718
BTNL8
2 0.925 0.040 5 180923167 intron variant A/C;G snv 0.74 0.700 1.000 1 2018 2018
dbSNP: rs62578127
rs62578127
LMX1B
1 1.000 0.040 9 126624581 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs6516886
rs6516886
RWDD2B
2 0.925 0.040 21 29021343 upstream gene variant A/T snv 0.66 0.700 1.000 1 2018 2018
dbSNP: rs678
rs678
ITIH1
2 1.000 0.040 3 52786965 missense variant A/G;T snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs75621460
rs75621460
TGFB1
3 0.882 0.040 19 41327879 intron variant G/A snv 2.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs7571789
rs7571789
TGFA
1 1.000 0.040 2 70487661 intron variant T/C snv 0.57 0.700 1.000 1 2019 2019