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: rs4242384
rs4242384 		3 0.882 0.160 8 127506309 regulatory region variant C/A snv 0.88 0.700 1.000 6 2008 2013
dbSNP: rs587780194
rs587780194
CHEK2
1 1.000 0.080 22 28699866 missense variant T/A;C snv 1.6E-05 0.700 1.000 5 2008 2015
dbSNP: rs750984976
rs750984976
CHEK2
1 1.000 0.080 22 28699879 missense variant T/C;G snv 4.0E-06 0.700 1.000 5 2008 2015
dbSNP: rs77130927
rs77130927
CHEK2
1 0.882 0.120 22 28725031 missense variant G/A snv 1.0E-03 5.5E-04 0.700 1.000 5 2008 2015
dbSNP: rs1016343
rs1016343
PCAT1 ; PRNCR1 ; CASC19 ; PCAT2
3 0.807 0.240 8 127081052 non coding transcript exon variant C/T snv 0.20 0.700 1.000 4 2008 2013
dbSNP: rs445114
rs445114
CASC8 ; PCAT1 ; CASC21
3 0.882 0.160 8 127310936 intron variant T/A;C snv 0.700 1.000 3 2009 2013
dbSNP: rs7130881
rs7130881
LOC105369367
3 0.882 0.160 11 69228491 intergenic variant A/C;G snv 0.700 1.000 3 2009 2013
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
13 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.700 1.000 2 2008 2013
dbSNP: rs10505483
rs10505483
PCAT1 ; CASC19
2 0.925 0.080 8 127112950 intron variant C/T snv 0.16 0.700 1.000 2 2008 2012
dbSNP: rs11006207
rs11006207 		1 1.000 0.080 10 46057646 regulatory region variant A/G snv 0.45 0.700 1.000 2 2008 2008
dbSNP: rs11988857
rs11988857 		1 1.000 0.080 8 127519628 intergenic variant G/A snv 0.80 0.700 1.000 2 2008 2008
dbSNP: rs1327301
rs1327301 		3 0.882 0.160 X 51467205 downstream gene variant C/T snv 0.29 0.700 1.000 2 2008 2009
dbSNP: rs16901970
rs16901970
PCAT1 ; CASC19
1 1.000 0.080 8 127100470 intron variant T/G snv 0.13 0.700 1.000 2 2008 2012
dbSNP: rs17023900
rs17023900 		2 0.925 0.080 3 87085650 upstream gene variant A/G snv 7.1E-02 0.700 1.000 2 2008 2012
dbSNP: rs3123078
rs3123078 		3 0.882 0.160 10 46070851 regulatory region variant G/A snv 0.55 0.700 1.000 2 2008 2009
dbSNP: rs6465657
rs6465657
LMTK2
3 0.807 0.280 7 98187015 intron variant C/T snv 0.41 0.37 0.700 1.000 2 2008 2009
dbSNP: rs651164
rs651164
SLC22A1
3 0.882 0.160 6 160160342 downstream gene variant A/G snv 0.69 0.700 1.000 2 2009 2011
dbSNP: rs7017300
rs7017300 		1 1.000 0.080 8 127513023 regulatory region variant C/A snv 0.81 0.700 1.000 2 2008 2008
dbSNP: rs7817677
rs7817677
PCAT1 ; CASC19
1 1.000 0.080 8 127113259 intron variant A/G snv 0.13 0.700 1.000 2 2008 2012
dbSNP: rs9656816
rs9656816 		1 1.000 0.080 8 127522409 intergenic variant G/A snv 0.94 0.700 1.000 2 2008 2008
dbSNP: rs10187424
rs10187424
VAMP8
2 0.925 0.080 2 85567174 intron variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs10503733
rs10503733
LOC107986930
2 0.925 0.080 8 23676505 downstream gene variant G/T snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs10808556
rs10808556
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
1 0.925 0.080 8 127400902 non coding transcript exon variant C/T snv 0.50 0.700 1.000 1 2008 2008
dbSNP: rs10875943
rs10875943 		2 0.925 0.080 12 49282227 intergenic variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs10896450
rs10896450 		1 1.000 0.080 11 69240647 regulatory region variant A/G snv 0.55 0.700 1.000 1 2008 2008