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: rs10496262
rs10496262
LOC102724542
1 2 81524000 intergenic variant C/A snv 0.12 0.800 1.000 1 2007 2007
dbSNP: rs10496265
rs10496265 		1 2 81441684 intergenic variant T/C snv 0.12 0.800 1.000 1 2007 2007
dbSNP: rs1463605
rs1463605
LOC105369715
1 12 29960950 regulatory region variant C/G snv 0.16 0.700 1.000 1 2007 2007
dbSNP: rs1528753
rs1528753 		1 11 91151171 intergenic variant A/C snv 0.70 0.700 1.000 1 2007 2007
dbSNP: rs7137869
rs7137869
LOC105370027
2 12 119551841 intron variant A/G snv 0.19 0.700 1.000 1 2007 2007
dbSNP: rs16991615
rs16991615
MCM8
6 0.925 0.080 20 5967581 missense variant G/A snv 4.5E-02 4.2E-02 0.800 1.000 6 2009 2019
dbSNP: rs1172822
rs1172822
BRSK1 ; TMEM150B
2 1.000 0.040 19 55308477 intron variant C/T snv 0.34 0.800 1.000 3 2009 2013
dbSNP: rs365132
rs365132
UIMC1
2 5 176951573 synonymous variant G/T snv 0.51 0.58 0.800 1.000 3 2009 2015
dbSNP: rs2153157
rs2153157
SYCP2L
1 6 10897255 intron variant G/A snv 0.55 0.800 1.000 2 2009 2012
dbSNP: rs236114
rs236114
MCM8
2 1.000 0.040 20 5954739 intron variant T/C snv 0.84 0.84 0.800 1.000 2 2009 2013
dbSNP: rs2384687
rs2384687
TMEM150B
1 19 55319820 non coding transcript exon variant A/G snv 0.38 0.700 1.000 2 2009 2013
dbSNP: rs897798
rs897798
TMEM150B
1 19 55322386 intron variant A/G snv 0.46 0.700 1.000 2 2009 2013
dbSNP: rs1551562
rs1551562
BRSK1
1 19 55303513 intron variant A/G snv 0.19 0.700 1.000 1 2009 2009
dbSNP: rs17153527
rs17153527 		1 7 106855364 intergenic variant T/C snv 9.3E-02 0.800 1.000 1 2009 2009
dbSNP: rs2151145
rs2151145 		1 9 79730966 downstream gene variant G/A snv 0.78 0.800 1.000 1 2009 2009
dbSNP: rs2807302
rs2807302
TLE4
1 9 79582820 intron variant G/A snv 0.29 0.700 1.000 1 2009 2009
dbSNP: rs314277
rs314277
LIN28B
6 0.925 0.080 6 104959787 intron variant A/C;G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs4397868
rs4397868 		1 11 133697090 intergenic variant C/T snv 0.87 0.800 1.000 1 2009 2009
dbSNP: rs4843747
rs4843747
BANP
1 16 87957445 intron variant A/C snv 0.83 0.800 1.000 1 2009 2009
dbSNP: rs494620
rs494620
CYP21A2 ; SLC44A4
3 0.925 0.120 6 31870936 stop gained G/A;T snv 0.44; 4.1E-06 0.800 1.000 1 2009 2009
dbSNP: rs4955755
rs4955755
SLC7A14-AS1 ; LOC105374211
1 3 170776620 intron variant G/A snv 0.55 0.800 1.000 1 2009 2009
dbSNP: rs6468442
rs6468442
ADGRA2
1 8 37829231 intron variant A/G snv 0.81 0.84 0.800 1.000 1 2009 2009
dbSNP: rs7333181
rs7333181 		2 1.000 0.040 13 111568950 intergenic variant G/A snv 0.11 0.800 1.000 1 2009 2009
dbSNP: rs7861820
rs7861820
LINC01505
2 9 106174393 intron variant T/C snv 0.62 0.700 1.000 1 2009 2009
dbSNP: rs2277339
rs2277339
PRIM1 ; HSD17B6
10 12 56752285 missense variant T/G snv 0.12 0.14 0.800 1.000 4 2012 2019