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: rs121918550
rs121918550
1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 6 1980 2015
dbSNP: rs138119149
rs138119149
0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 4 2011 2014
dbSNP: rs368934219
rs368934219
1.000 6 44303177 splice acceptor variant T/C snv 1.6E-05 1.4E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 4 2011 2014
dbSNP: rs1555179320
rs1555179320
0.925 0.040 12 21817283 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 8 1999 2013
dbSNP: rs267604368
rs267604368
1.000 15 88858712 stop gained G/A;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 11 1990 2017
dbSNP: rs769182426
rs769182426
1.000 7 5528100 missense variant G/A;C snv 8.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 10 1999 2017
dbSNP: rs397517065
rs397517065
15 34792471 missense variant G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 5 2007 2016
dbSNP: rs1555666392
rs1555666392
1.000 17 81510814 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 13 1990 2017
dbSNP: rs587777384
rs587777384
1.000 0.040 2 73913566 missense variant G/A;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 7 2009 2017
dbSNP: rs387906589
rs387906589
0.925 0.120 2 157766004 missense variant C/A;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 4 1996 2015
dbSNP: rs1555809836
rs1555809836
20 50892215 frameshift variant T/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 11 2001 2017
dbSNP: rs1555809919
rs1555809919
1.000 20 50892427 frameshift variant A/-;AA delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 11 2001 2017
dbSNP: rs587777526
rs587777526
0.925 0.160 20 50892557 stop gained G/A;C;T snv 2.0E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 11 2001 2017
dbSNP: rs267606653
rs267606653
0.925 11 44267607 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 6 2000 2012
dbSNP: rs137852217
rs137852217
0.925 0.040 X 64192215 stop gained G/A;T snv 1.6E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 8 1980 2017
dbSNP: rs1555528558
rs1555528558
1.000 16 89283207 frameshift variant -/T delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 17 2004 2017
dbSNP: rs1555529572
rs1555529572
1.000 16 89284912 frameshift variant GTGCTGGT/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 17 2004 2017
dbSNP: rs797044890
rs797044890
16 89275092 splice donor variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 1 2015 2015
dbSNP: rs1555904596
rs1555904596
1.000 X 8731936 frameshift variant -/AGCAGCCGCGC delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 7 1991 2014
dbSNP: rs1554231814
rs1554231814
6 157184262 frameshift variant C/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 20 1984 2017
dbSNP: rs1554234424
rs1554234424
1.000 6 157196295 stop gained T/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 20 1984 2017
dbSNP: rs1554236054
rs1554236054
1.000 6 157201481 frameshift variant -/G delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 20 1984 2017
dbSNP: rs797045282
rs797045282
1.000 0.280 6 157206545 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 20 1984 2017
dbSNP: rs797044859
rs797044859
6 157200765 frameshift variant AT/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 1 2015 2015
dbSNP: rs1189399471
rs1189399471
1.000 1 197103099 frameshift variant T/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 10 2002 2016