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: rs1131690789
rs1131690789
1.000 X 47181316 frameshift variant AG/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 0
dbSNP: rs1281877795
rs1281877795
1.000 2 55249467 frameshift variant CTTTTTTCACT/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 0
dbSNP: rs1553535063
rs1553535063
2 201085517 frameshift variant T/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 0
dbSNP: rs1553878198
rs1553878198
1.000 4 26406245 missense variant C/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 0
dbSNP: rs1555605893
rs1555605893
17 40637502 missense variant T/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 0
dbSNP: rs1555918056
rs1555918056
X 40072918 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 0
dbSNP: rs1557189252
rs1557189252
1.000 X 54465532 missense variant G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 0
dbSNP: rs1563183469
rs1563183469
0.925 0.120 7 70766245 missense variant A/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 0
dbSNP: rs779617179
rs779617179
2 205763747 frameshift variant T/- del 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 0
dbSNP: rs1556019107
rs1556019107
1.000 X 134415106 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 6 1962 2016
dbSNP: rs1555907749
rs1555907749
22 41131612 frameshift variant -/T delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 19 1963 2016
dbSNP: rs1555473499
rs1555473499
0.925 0.120 16 3738605 missense variant A/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 18 1963 2017
dbSNP: rs1555475250
rs1555475250
16 3744921 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 18 1963 2017
dbSNP: rs1555478331
rs1555478331
16 3757990 frameshift variant T/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 18 1963 2017
dbSNP: rs137854562
rs137854562
NF1
0.925 0.120 17 31235623 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 34 1967 2017
dbSNP: rs1555533842
rs1555533842
NF1
1.000 17 31330303 frameshift variant -/C delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 34 1967 2017
dbSNP: rs28933386
rs28933386
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 20 1968 2016
dbSNP: rs397507520
rs397507520
0.658 0.520 12 112453279 missense variant G/C;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 20 1968 2016
dbSNP: rs397507529
rs397507529
0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 20 1968 2016
dbSNP: rs397507531
rs397507531
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 20 1968 2016
dbSNP: rs180177035
rs180177035
0.752 0.280 7 140801502 missense variant T/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 8 1968 2013
dbSNP: rs869025340
rs869025340
0.925 0.160 7 140777032 missense variant A/C;G;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 8 1968 2013
dbSNP: rs1556779417
rs1556779417
1.000 X 47181541 frameshift variant GT/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 6 1970 2017
dbSNP: rs1555240361
rs1555240361
1.000 12 115966138 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 16 1971 2018
dbSNP: rs1555240376
rs1555240376
1.000 12 115966189 missense variant G/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 16 1971 2018