Source: BEFREE ×
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: rs1554653960
rs1554653960
CDKN2A
1 0.925 0.040 9 21971007 missense variant C/T snv 0.010 1.000 1 1997 1997
dbSNP: rs1639679
rs1639679
BRAF
1 1.000 0.040 7 140778454 intron variant G/T snv 9.8E-02 0.010 1.000 1 2005 2005
dbSNP: rs17119461
rs17119461
LINC02627
1 1.000 0.040 10 105756594 intergenic variant T/C snv 7.7E-02 0.810 1.000 1 2012 2014
dbSNP: rs17119490
rs17119490
LINC02627
1 1.000 0.040 10 105763169 intergenic variant G/A snv 6.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs17817117
rs17817117
ABCB5
1 1.000 0.040 7 20685203 intron variant G/C snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs1800522
rs1800522
AIRE
1 1.000 0.040 21 44297667 synonymous variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs187843643
rs187843643
LINC02218
1 1.000 0.040 5 17453974 intron variant C/T snv 3.9E-03 0.710 1.000 1 2017 2017
dbSNP: rs201326893
rs201326893
MC1R
1 1.000 0.040 16 89919714 stop gained C/A snv 8.4E-04 5.4E-04 0.010 1.000 1 2007 2007
dbSNP: rs201351378
rs201351378
MITF
1 1.000 0.040 3 69964926 missense variant G/A snv 1.2E-05 2.8E-05 0.010 1.000 1 2009 2009
dbSNP: rs2127675
rs2127675 		1 1.000 0.040 6 32883073 upstream gene variant A/G snv 0.36 0.010 < 0.001 1 2013 2013
dbSNP: rs215605
rs215605
PDE1C
1 1.000 0.040 7 32297353 intron variant G/T snv 0.54 0.010 1.000 1 2016 2016
dbSNP: rs2237028
rs2237028
KIT
1 1.000 0.040 4 54670209 intron variant T/G snv 0.44 0.010 1.000 1 2013 2013
dbSNP: rs2301641
rs2301641
ABCB5
1 1.000 0.040 7 20658647 missense variant A/G snv 0.33 0.40 0.010 1.000 1 2013 2013
dbSNP: rs2306574
rs2306574
PRKCD
1 1.000 0.040 3 53188745 synonymous variant C/T snv 0.75 0.75 0.010 1.000 1 2017 2017
dbSNP: rs267600971
rs267600971
CYP21A2 ; DXO ; STK19
1 0.882 0.080 6 31972346 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs2733832
rs2733832
TYRP1 ; LURAP1L-AS1
1 1.000 0.040 9 12704725 intron variant C/A;G;T snv 8.0E-06; 0.45 0.010 1.000 1 2015 2015
dbSNP: rs28720291
rs28720291
DDB1
1 1.000 0.040 11 61322299 synonymous variant C/T snv 5.9E-03 6.3E-03 0.010 1.000 1 2013 2013
dbSNP: rs2981096
rs2981096
TERF1
1 1.000 0.040 8 73027927 intron variant A/G snv 3.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs3213119
rs3213119
IL12B
1 1.000 0.040 5 159316780 missense variant C/A snv 2.1E-02 2.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs3219125
rs3219125
PARP1
1 1.000 0.040 1 226367250 non coding transcript exon variant T/C snv 5.0E-02 0.010 1.000 1 2011 2011
dbSNP: rs35414
rs35414
SLC45A2
1 1.000 0.040 5 33969523 intron variant T/C snv 0.45 0.010 1.000 1 2011 2011
dbSNP: rs35741010
rs35741010
CDKN2A
1 1.000 0.040 9 21971055 missense variant C/T snv 4.3E-06 0.010 1.000 1 2014 2014
dbSNP: rs368807126
rs368807126
RAF1
1 1.000 0.040 3 12591730 missense variant T/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs371344688
rs371344688
NTRK1
1 1.000 0.040 1 156876514 missense variant C/G;T snv 6.4E-05; 2.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs374827260
rs374827260
MC1R
1 1.000 0.040 16 89919608 missense variant A/G;T snv 4.1E-06; 1.2E-05 0.010 1.000 1 2014 2014