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: rs514406
rs514406
ZYG11A
2 1 52864786 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4703904
rs4703904
ZNF366
2 5 72466717 intron variant G/A snv 0.56 0.700 1.000 1 2016 2016
dbSNP: rs562752749
rs562752749
WBP1L
2 10 102805443 intron variant TT/-;T;TTT;TTTT;TTTTT;TTTTTTT;TTTTTTTTTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs7212590
rs7212590
VMP1
2 17 59808348 intron variant C/T snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs2753960
rs2753960
VARS1
2 6 31795067 missense variant G/T snv 0.43 0.36 0.700 1.000 1 2016 2016
dbSNP: rs9469054
rs9469054
VARS1
2 6 31793286 intron variant G/A snv 3.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs4837892
rs4837892
TTLL11
13 9 121826025 intron variant G/T snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs138918
rs138918
TSPO
2 22 43163445 downstream gene variant G/A snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs13271228
rs13271228
TRPS1
2 8 115585182 intron variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs62396356
rs62396356
TREML2
2 6 41200025 intron variant A/G snv 9.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs12461821
rs12461821
TNFSF14
2 19 6671358 upstream gene variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs4149577
rs4149577
TNFRSF1A
7 0.827 0.280 12 6338356 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs34557412
rs34557412
TNFRSF13B
15 0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03 0.700 1.000 1 2016 2016
dbSNP: rs869785
rs869785
THRB
2 3 24306309 intron variant T/C snv 0.70 0.700 1.000 1 2016 2016
dbSNP: rs11580646
rs11580646
TENT5C
2 1 117619797 intron variant C/G snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs3085271
rs3085271
TENT5A
2 6 81753761 upstream gene variant TT/-;T;TTT delins 0.37 0.700 1.000 1 2016 2016
dbSNP: rs66519732
rs66519732
TBC1D14
2 4 6988842 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs568868093
rs568868093
TADA2B ; CCDC96 ; LOC100129931
2 4 7043344 intron variant CGG/-;CGGCGG;CGGCGGCGG;CGGCGGCGGCGG;CGGCGGCGGCGGCGG delins 0.700 1.000 1 2016 2016
dbSNP: rs10147992
rs10147992
STXBP6
3 14 25034593 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2004925
rs2004925
STXBP6
2 14 24976156 intron variant G/A snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs2038700
rs2038700
STXBP6
7 14 24992783 intron variant T/C snv 0.53 0.700 1.000 1 2016 2016
dbSNP: rs4474742
rs4474742
SSH2
2 17 29738560 intron variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs28375303
rs28375303
SSBP4
2 19 18419351 5 prime UTR variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs3931
rs3931
SPC25 ; NOSTRIN
2 2 168864871 synonymous variant A/G snv 4.0E-06; 0.27 0.25 0.700 1.000 1 2016 2016
dbSNP: rs6125961
rs6125961
SMIM25
2 20 50267587 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2016 2016