Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs25487
rs25487
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.060 1.000 6 2004 2012
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.040 1.000 4 2011 2015
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.030 1.000 3 2004 2012
dbSNP: rs1042522
rs1042522
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.020 1.000 2 2010 2012
dbSNP: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.020 1.000 2 2010 2012
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.020 1.000 2 2004 2012
dbSNP: rs759412116
rs759412116
0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.020 1.000 2 2004 2012
dbSNP: rs878854066
rs878854066
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.020 1.000 2 2010 2012
dbSNP: rs1024708183
rs1024708183
0.925 0.040 19 7909761 missense variant A/G snv
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 1.000 1 2018 2018
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 1.000 1 2012 2012
dbSNP: rs1057519695
rs1057519695
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 1.000 1 2018 2018
dbSNP: rs1057519834
rs1057519834
0.658 0.480 1 114713908 missense variant TG/CT mnv
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 1.000 1 2018 2018
dbSNP: rs1057520007
rs1057520007
0.701 0.440 17 7674917 missense variant T/A;C;G snv
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 1.000 1 2017 2017
dbSNP: rs1131691041
rs1131691041
17 7676271 frameshift variant -/A delins
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 1.000 1 2017 2017
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 1.000 1 2012 2012
dbSNP: rs11554290
rs11554290
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 1.000 1 2005 2005
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 1.000 1 2012 2012
dbSNP: rs121965059
rs121965059
OAT
0.925 0.080 10 124403892 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 1.000 1 2005 2005
dbSNP: rs1372047743
rs1372047743
8 47960120 missense variant C/T snv 9.7E-06
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 1.000 1 2015 2015
dbSNP: rs1383997
rs1383997
8 72005483 intron variant T/C snv 0.58
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 1.000 1 2019 2019
dbSNP: rs1395746092
rs1395746092
19 43575449 missense variant T/C snv 7.0E-06
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 1.000 1 2004 2004
dbSNP: rs1431381385
rs1431381385
XPC
3 14167204 missense variant G/A snv 4.1E-06 1.4E-05
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 1.000 1 2004 2004
dbSNP: rs1470755915
rs1470755915
0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 < 0.001 1 2011 2011
dbSNP: rs1486253194
rs1486253194
XPC
3 14146063 frameshift variant CCAGTATCCTGGCC/- del 7.0E-06
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 1.000 1 2004 2004