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: rs11374964
rs11374964
1 1.000 0.080 11 108474788 3 prime UTR variant -/A ins 2.4E-05; 0.47 0.43 0.700 1.000 1 2017 2017
dbSNP: rs111307654
rs111307654
1 1.000 0.080 7 94655777 intron variant -/AA;AAA;AAAA delins 0.700 1.000 1 2017 2017
dbSNP: rs10644111
rs10644111
1 1.000 0.080 7 92022864 protein altering variant -/AAC delins 0.39 0.46 0.700 1.000 1 2017 2017
dbSNP: rs16342
rs16342
1 1.000 0.080 4 1983005 3 prime UTR variant -/AACA;ACA delins 0.700 1.000 1 2017 2017
dbSNP: rs483353122
rs483353122
4 0.851 0.200 13 32363410 frameshift variant -/AG ins 0.010 1.000 1 2019 2019
dbSNP: rs1114167628
rs1114167628
5 0.925 0.080 10 87961033 stop gained -/ATATCTAG delins 0.010 1.000 1 2013 2013
dbSNP: rs138060088
rs138060088
1 1.000 0.080 5 44933882 intergenic variant -/ATG delins 0.46 0.700 1.000 1 2017 2017
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.833 42 2003 2018
dbSNP: rs886040340
rs886040340
4 0.882 0.080 13 32319111 frameshift variant -/C delins 0.010 1.000 1 2017 2017
dbSNP: rs28360317
rs28360317
15 0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 0.010 < 0.001 1 2012 2012
dbSNP: rs11283943
rs11283943
MCC
4 0.882 0.160 5 113071088 splice donor variant -/CGCACTGTCTTCCT;CGCGCTGTCTTCCT;CGTGCTGTCTTCCT delins 0.010 1.000 1 2011 2011
dbSNP: rs143072280
rs143072280
1 1.000 0.080 10 38105003 intron variant -/CTTT delins 0.40 0.700 1.000 1 2017 2017
dbSNP: rs3215401
rs3215401
1 1.000 0.080 5 1296140 upstream gene variant -/G delins 0.25 0.700 1.000 2 2017 2017
dbSNP: rs113289039
rs113289039
1 1.000 0.080 6 166087861 intergenic variant -/G delins 0.35 0.700 1.000 1 2017 2017
dbSNP: rs80357906
rs80357906
8 0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 0.010 < 0.001 1 2019 2019
dbSNP: rs11462858
rs11462858
1 1.000 0.080 10 121334477 intergenic variant -/T delins 0.40 0.700 1.000 1 2017 2017
dbSNP: rs35522438
rs35522438
1 1.000 0.080 7 92243558 intron variant -/T delins 0.40 0.700 1.000 1 2017 2017
dbSNP: rs56077980
rs56077980
FTO
1 1.000 0.080 16 54107654 intron variant -/T delins 0.26 0.700 1.000 1 2017 2017
dbSNP: rs3215684
rs3215684
2 0.925 0.080 20 50578329 intron variant -/T;TC ins 0.62 0.010 1.000 1 2019 2019
dbSNP: rs70991108
rs70991108
6 0.807 0.280 5 80654344 intron variant -/TCGCGCGTCCCGCCCAGGT;TGGCGCGTCCCGCCCAGGT ins 0.51 0.010 1.000 1 2012 2012
dbSNP: rs1414323823
rs1414323823
4 0.851 0.160 15 74722772 frameshift variant -/TCTCGGT ins 4.0E-06 0.020 1.000 2 2011 2015
dbSNP: rs113211432
rs113211432
3 0.882 0.080 2 214767532 frameshift variant -/TG delins 0.020 1.000 2 2003 2006
dbSNP: rs3783553
rs3783553
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.010 1.000 1 2016 2016
dbSNP: rs10623258
rs10623258
1 1.000 0.080 14 104745924 non coding transcript exon variant -/TT ins 0.56 0.700 1.000 1 2017 2017
dbSNP: rs78579487
rs78579487
1 1.000 0.080 3 156800879 intron variant -/TT delins 0.55 0.700 1.000 1 2017 2017