Source: CURATED ×
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: rs116260619
rs116260619 		1 1.000 0.080 6 30479897 intergenic variant A/C snv 0.700 1.000 1 2017 2017
dbSNP: rs116480994
rs116480994
ZNRD1
2 0.925 0.080 6 30064745 3 prime UTR variant A/C snv 0.700 1.000 1 2017 2017
dbSNP: rs55902839
rs55902839
TMEM237
1 1.000 0.080 2 201641266 intron variant A/C snv 0.47 0.700 1.000 1 2017 2017
dbSNP: rs67340775
rs67340775
ZSCAN31
1 1.000 0.080 6 28336607 intron variant A/C snv 6.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs7042889
rs7042889 		2 0.925 0.080 9 129033082 upstream gene variant A/C snv 0.15 0.700 1.000 1 2017 2017
dbSNP: rs77045810
rs77045810 		1 1.000 0.080 1 168535779 downstream gene variant A/C snv 0.10 0.700 1.000 1 2017 2017
dbSNP: rs17879961
rs17879961
CHEK2
15 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.730 1.000 1 2008 2016
dbSNP: rs2596500
rs2596500
HLA-B
2 0.925 0.120 6 31353490 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs113488022
rs113488022
BRAF
22 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.750 1.000 12 2002 2018
dbSNP: rs722864
rs722864
MAP3K20
1 0.882 0.080 2 173118476 intron variant A/C;G;T snv 0.710 1.000 1 2017 2018
dbSNP: rs121913366
rs121913366
BRAF
7 0.763 0.400 7 140753345 missense variant A/C;T snv 0.700 1.000 1 2002 2002
dbSNP: rs180177042
rs180177042
BRAF
7 0.807 0.280 7 140749365 missense variant A/C;T snv 0.700 0
dbSNP: rs147680653
rs147680653 		17 0.708 0.280 6 29785031 intergenic variant A/G snv 0.700 1.000 2 2016 2017
dbSNP: rs10436951
rs10436951
CEP170
1 1.000 0.080 1 243199378 intron variant A/G snv 7.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs114385935
rs114385935
LINC00533 ; LOC105374996
1 1.000 0.080 6 28651576 upstream gene variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs114393147
rs114393147 		1 1.000 0.080 6 33157965 downstream gene variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs115392158
rs115392158
HLA-B
17 0.708 0.280 6 31347004 intron variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs116298963
rs116298963 		1 1.000 0.080 6 32911694 intergenic variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs116822326
rs116822326
HCP5
2 0.925 0.080 6 31466334 non coding transcript exon variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs116826541
rs116826541 		1 1.000 0.080 6 29180617 upstream gene variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs12201100
rs12201100
LOC105378031
1 1.000 0.080 6 141851652 intergenic variant A/G snv 4.7E-03 0.700 1.000 1 2018 2018
dbSNP: rs13212562
rs13212562 		4 0.925 0.120 6 27332531 intergenic variant A/G snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs139789464
rs139789464
BAG6 ; APOM
2 0.925 0.080 6 31657087 intron variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs141752671
rs141752671 		17 0.708 0.280 11 103745837 intron variant A/G snv 5.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs142618987
rs142618987 		2 0.925 0.080 6 30540143 downstream gene variant A/G snv 0.700 1.000 1 2017 2017