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: rs201131773
rs201131773
1 1.000 0.040 9 21805207 intron variant -/AC delins 0.700 1.000 1 2017 2017
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.900 10 2006 2017
dbSNP: rs1231071385
rs1231071385
1 1.000 0.040 2 175093177 frameshift variant -/G ins 0.010 1.000 1 2010 2010
dbSNP: rs1057519729
rs1057519729
6 0.827 0.080 15 66435113 missense variant A/C snv 0.700 1.000 2 2009 2013
dbSNP: rs1057519735
rs1057519735
1 1.000 0.040 15 66490577 missense variant A/C snv 0.700 1.000 1 2011 2011
dbSNP: rs1351383
rs1351383
1 1.000 0.040 6 32854492 intron variant A/C snv 0.43 0.010 < 0.001 1 2013 2013
dbSNP: rs144460286
rs144460286
2 0.925 0.080 7 55155922 missense variant A/C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1453167097
rs1453167097
2 0.925 0.080 17 7675172 missense variant A/C snv 0.010 1.000 1 2013 2013
dbSNP: rs1847134
rs1847134
3 0.925 0.080 11 89272085 intron variant A/C snv 0.26 0.700 1.000 1 2014 2014
dbSNP: rs374980122
rs374980122
1 1.000 0.040 2 111142384 missense variant A/C snv 1.3E-05 3.5E-05 0.010 1.000 1 2009 2009
dbSNP: rs397507482
rs397507482
3 0.882 0.040 7 140753386 missense variant A/C snv 0.010 1.000 1 2019 2019
dbSNP: rs4845622
rs4845622
1 1.000 0.040 1 154438943 intron variant A/C snv 0.32 0.010 1.000 1 2008 2008
dbSNP: rs498136
rs498136
4 0.851 0.080 11 69552350 intergenic variant A/C snv 0.68 0.700 1.000 1 2017 2017
dbSNP: rs121913512
rs121913512
KIT
9 0.851 0.120 4 54728055 missense variant A/C;G snv 0.700 1.000 9 1995 2011
dbSNP: rs1057520031
rs1057520031
KIT
2 1.000 0.040 4 54727440 missense variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs11225395
rs11225395
11 0.776 0.360 11 102725749 intron variant A/C;G snv 0.010 1.000 1 2011 2011
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: rs2227981
rs2227981
12 0.763 0.400 2 241851121 synonymous variant A/C;G snv 1.6E-04; 0.63 0.010 1.000 1 2018 2018
dbSNP: rs35407
rs35407
6 0.807 0.080 5 33946466 3 prime UTR variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs397516790
rs397516790
2 0.925 0.200 15 66435115 missense variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs4785759
rs4785759
1 1.000 0.040 16 89984472 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 0.979 477 2002 2020
dbSNP: rs121913274
rs121913274
33 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.700 1.000 2 2014 2014
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs121913396
rs121913396
13 0.732 0.200 3 41224607 missense variant A/C;G;T snv 0.700 1.000 1 2014 2014