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: rs368869806
rs368869806
PTCH1
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2019 2019
dbSNP: rs61861119
rs61861119 		1 1.000 0.040 10 93182666 intergenic variant A/G snv 0.45 0.700 1.000 1 2018 2018
dbSNP: rs553774660
rs553774660
TYR ; LOC107984363
1 1.000 0.040 11 89178097 missense variant G/T snv 0.010 1.000 1 2005 2005
dbSNP: rs9309969
rs9309969
CADM2
2 1.000 0.040 3 85085406 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs9284802
rs9284802
CADM2
1 1.000 0.040 3 85046615 intron variant G/A snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs28500712
rs28500712
AFAP1
2 1.000 0.040 4 7894486 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs28795989
rs28795989
AFAP1
2 1.000 0.040 4 7889818 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs7663205
rs7663205
AFAP1
1 1.000 0.040 4 7887369 intron variant C/T snv 0.45 0.700 1.000 1 2018 2018
dbSNP: rs3766355
rs3766355
PTGFR
3 0.882 0.040 1 78491756 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs28520091
rs28520091
AFAP1
2 1.000 0.040 4 7844513 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs397514698
rs397514698
GNAQ
52 0.667 0.400 9 77797577 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs59758982
rs59758982
TP53
2 0.925 0.040 17 7676326 intron variant TCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCC/-;TCCAGGTCCCCAGCCC;TCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCC delins 0.82 0.010 1.000 1 2009 2009
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.050 0.600 5 2005 2018
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.040 0.500 4 2005 2018
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.040 0.500 4 2005 2018
dbSNP: rs187112398
rs187112398
LOC101929408
1 1.000 0.040 15 75756813 intron variant C/T snv 7.6E-04 0.700 1.000 1 2018 2018
dbSNP: rs10152898
rs10152898 		1 1.000 0.040 15 73962780 intergenic variant G/A;T snv 0.700 1.000 1 2007 2007
dbSNP: rs4243042
rs4243042
LOXL1
1 1.000 0.040 15 73949283 intron variant A/T snv 0.37 0.700 1.000 1 2007 2007
dbSNP: rs750460
rs750460
LOXL1
3 1.000 0.040 15 73949165 intron variant G/A;T snv 0.700 1.000 1 2007 2007
dbSNP: rs2304719
rs2304719
LOXL1
1 1.000 0.040 15 73943159 intron variant C/T snv 0.30 0.700 1.000 1 2007 2007
dbSNP: rs12440667
rs12440667
LOXL1
2 1.000 0.040 15 73939098 intron variant C/A;T snv 0.700 1.000 1 2007 2007
dbSNP: rs893817
rs893817
LOXL1
1 1.000 0.040 15 73936724 intron variant G/A snv 0.67 0.700 1.000 1 2007 2007
dbSNP: rs4886782
rs4886782
LOXL1
5 1.000 0.040 15 73936469 intron variant G/A snv 0.27 0.700 1.000 1 2007 2007