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: rs1805008
rs1805008
MC1R
16 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.030 1.000 3 2000 2019
dbSNP: rs1805009
rs1805009
MC1R ; TUBB3
9 0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03 0.020 1.000 2 2000 2018
dbSNP: rs1805006
rs1805006
MC1R
8 0.790 0.080 16 89919510 missense variant C/A;G snv 5.2E-03; 4.0E-06 0.020 1.000 2 2001 2008
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 26 2003 2020
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 24 2003 2020
dbSNP: rs121913227
rs121913227
BRAF
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.020 1.000 2 2003 2005
dbSNP: rs758389471
rs758389471
CDKN2A
3 0.882 0.080 9 21971160 missense variant C/G;T snv 4.7E-06; 4.7E-06 0.010 1.000 1 2003 2003
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2006 2016
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2006 2006
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
29 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.020 1.000 2 2008 2011
dbSNP: rs13006529
rs13006529
CASP10
7 0.851 0.080 2 201217736 missense variant T/A snv 0.41 0.42 0.010 1.000 1 2008 2008
dbSNP: rs137854599
rs137854599
CDKN2A
4 0.882 0.080 9 21971093 missense variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs202042867
rs202042867
POMC
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: rs3834129
rs3834129
CASP8
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.010 1.000 1 2008 2008
dbSNP: rs1805007
rs1805007
MC1R
25 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.030 1.000 3 2009 2019
dbSNP: rs1799939
rs1799939
RET
27 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.020 1.000 2 2009 2012
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2009 2009
dbSNP: rs910873
rs910873
PIGU
3 0.882 0.160 20 34583968 intron variant G/A;C snv 0.010 < 0.001 1 2009 2009
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.070 1.000 7 2010 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.060 1.000 6 2010 2016
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.060 1.000 6 2010 2016
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.030 1.000 3 2010 2014
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.030 0.667 3 2010 2016
dbSNP: rs10813813
rs10813813
ACO1
1 1.000 0.080 9 32422404 intron variant A/T snv 0.34 0.010 1.000 1 2010 2010
dbSNP: rs17288067
rs17288067
ACO1
1 1.000 0.080 9 32409048 intron variant G/A snv 0.14 0.010 1.000 1 2010 2010