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: rs1057519955
rs1057519955
1 1.000 0.080 2 218584682 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs10813813
rs10813813
1 1.000 0.080 9 32422404 intron variant A/T snv 0.34 0.010 1.000 1 2010 2010
dbSNP: rs17288067
rs17288067
1 1.000 0.080 9 32409048 intron variant G/A snv 0.14 0.010 1.000 1 2010 2010
dbSNP: rs202042867
rs202042867
1 1.000 0.080 2 25161630 missense variant G/C snv 8.6E-05 4.7E-04 0.010 1.000 1 2008 2008
dbSNP: rs7855483
rs7855483
1 1.000 0.080 9 32372464 intergenic variant C/T snv 0.79 0.010 1.000 1 2010 2010
dbSNP: rs10492396
rs10492396
2 0.925 0.080 13 32384750 non coding transcript exon variant G/A snv 4.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs1057519880
rs1057519880
2 0.925 0.080 19 49665875 missense variant C/T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519885
rs1057519885
2 0.925 0.080 20 20052443 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519894
rs1057519894
2 0.925 0.160 7 148811650 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519907
rs1057519907
KIT
2 0.925 0.120 4 54728057 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1990330
rs1990330
2 0.925 0.080 12 3038296 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs206118
rs206118
2 0.925 0.080 13 32315655 5 prime UTR variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs3752447
rs3752447
2 0.925 0.080 13 32407005 non coding transcript exon variant C/T snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs62068372
rs62068372
2 0.925 0.080 16 89718699 intron variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs763733111
rs763733111
2 0.925 0.120 9 125149801 missense variant G/A snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs7944031
rs7944031
2 0.925 0.080 11 12907573 intron variant A/G snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs869330
rs869330
2 0.925 0.080 9 21804618 intron variant A/G snv 0.62 0.010 1.000 1 2019 2019
dbSNP: rs267599211
rs267599211
3 0.882 0.080 2 218584683 missense variant C/T snv 0.710 1.000 2 2015 2016
dbSNP: rs1057519876
rs1057519876
3 0.882 0.160 X 47566721 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1148732
rs1148732
3 0.882 0.080 12 12915357 3 prime UTR variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs11532907
rs11532907
3 0.882 0.080 9 21844773 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs117648907
rs117648907
3 0.882 0.080 15 32985509 intron variant C/T snv 1.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs12512631
rs12512631
3 0.882 0.200 4 71735614 intergenic variant T/C snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs12596638
rs12596638
FTO
3 0.882 0.080 16 54081917 intron variant G/A snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs1484375
rs1484375
3 0.882 0.080 9 106305280 intron variant A/G;T snv 0.700 1.000 1 2018 2018