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: rs2293479
rs2293479
AP4M1
1 1.000 0.080 7 100106335 intron variant T/C;G snv 0.29; 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs4727449
rs4727449
STAG3 ; CASTOR3
1 1.000 0.080 7 100188127 intron variant C/T snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs866500
rs866500
CASTOR3
1 1.000 0.080 7 100242838 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs858502
rs858502
CASTOR3
1 1.000 0.080 7 100245730 intron variant T/C snv 0.50 0.700 1.000 1 2018 2018
dbSNP: rs35305377
rs35305377
PMS2P1 ; STAG3L5P ; STAG3L5P-PVRIG2P-PILRB
1 1.000 0.080 7 100341332 intron variant G/A snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs2289506
rs2289506
NIT2
1 1.000 0.080 3 100346058 non coding transcript exon variant C/T snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs1859788
rs1859788
PILRA
3 0.925 0.080 7 100374211 missense variant A/C;G snv 4.0E-06; 0.65 0.720 1.000 4 2018 2019
dbSNP: rs374019283
rs374019283
FANCD2
5 0.882 0.200 3 10039759 synonymous variant T/C snv 4.0E-05 2.2E-04 0.010 1.000 1 2002 2002
dbSNP: rs1476679
rs1476679
ZCWPW1
2 0.925 0.080 7 100406823 intron variant C/A;T snv 4.0E-06; 0.74 0.830 1.000 5 2013 2019
dbSNP: rs4807399
rs4807399
GRIN3B
1 1.000 0.080 19 1004711 missense variant C/T snv 0.44 0.46 0.010 < 0.001 1 2009 2009
dbSNP: rs865862446
rs865862446
FANCD2
5 0.882 0.200 3 10049416 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs2240158
rs2240158
GRIN3B
2 0.925 0.120 19 1005231 missense variant C/T snv 0.36 0.41 0.010 < 0.001 1 2009 2009
dbSNP: rs117969561
rs117969561
GGACT
1 1.000 0.080 13 100558935 intron variant C/T snv 2.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs2734897
rs2734897
AGFG2
1 1.000 0.080 7 100561944 intron variant A/G snv 0.74 0.700 1.000 1 2018 2018
dbSNP: rs714873
rs714873 		4 0.882 0.200 4 10057994 upstream gene variant G/A snv 0.74 0.700 1.000 1 2012 2012
dbSNP: rs5966709
rs5966709
TNMD
1 1.000 0.080 X 100589509 intron variant G/T snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs6834555
rs6834555 		4 0.882 0.200 4 10060702 regulatory region variant G/A snv 0.74 0.700 1.000 1 2012 2012
dbSNP: rs747604554
rs747604554
FANCD2
1 1.000 0.080 3 10065441 frameshift variant TT/- delins 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs2970989
rs2970989 		1 1.000 0.080 2 100697607 intergenic variant T/G snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs1513625
rs1513625 		1 1.000 0.080 2 100698011 intergenic variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1399439
rs1399439
ANO4
1 1.000 0.080 12 100827461 intron variant A/G snv 3.7E-02 0.800 1.000 1 2014 2014
dbSNP: rs751236171
rs751236171
ACHE ; UFSP1
1 1.000 0.080 7 100891280 missense variant C/T snv 1.7E-05 0.010 1.000 1 2019 2019
dbSNP: rs964917
rs964917
YWHAZ
1 1.000 0.080 8 100925227 intron variant T/C snv 0.55 0.010 1.000 1 2008 2008
dbSNP: rs983583
rs983583
YWHAZ
2 0.925 0.080 8 100949682 intron variant T/C snv 0.66 0.010 1.000 1 2008 2008
dbSNP: rs2227631
rs2227631
SERPINE1
13 0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54 0.010 1.000 1 2012 2012