Source: CLINVAR

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: rs1057520700
rs1057520700
WAS
1.000 0.120 X 48685634 splice donor variant G/A;C;T snv
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
0.700 0
dbSNP: rs1553621496
rs1553621496
0.677 0.440 2 209976305 splice donor variant T/G snv
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
0.700 0
dbSNP: rs1553785033
rs1553785033
0.882 0.120 3 170998321 missense variant C/T snv
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
0.700 0
dbSNP: rs1567705064
rs1567705064
1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
0.700 0
dbSNP: rs200661329
rs200661329
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
0.700 0
dbSNP: rs28934907
rs28934907
0.732 0.320 X 154032268 missense variant G/A;C snv
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
0.700 0
dbSNP: rs1057518806
rs1057518806
1.000 0.040 11 119093155 frameshift variant G/- del
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.700 0
dbSNP: rs1057518886
rs1057518886
11 119090043 frameshift variant C/- delins
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.700 0
dbSNP: rs1163944538
rs1163944538
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.700 0
dbSNP: rs1352010373
rs1352010373
0.641 0.560 17 75489265 splice acceptor variant G/C snv
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.700 0
dbSNP: rs148636776
rs148636776
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.700 0
dbSNP: rs1553655558
rs1553655558
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.700 0
dbSNP: rs1554995260
rs1554995260
1.000 0.120 11 57602098 frameshift variant -/T delins
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.700 0
dbSNP: rs1555206402
rs1555206402
0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.700 0
dbSNP: rs1555738475
rs1555738475
0.776 0.400 19 1220707 frameshift variant G/- delins
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.700 0
dbSNP: rs28934907
rs28934907
0.732 0.320 X 154032268 missense variant G/A;C snv
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.700 0
dbSNP: rs606231435
rs606231435
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.700 0
dbSNP: rs146064714
rs146064714
1.000 0.080 4 99622756 stop gained G/T snv 1.2E-04 3.5E-05
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.700 1.000 4 1995 2007
dbSNP: rs199422220
rs199422220
1.000 0.080 4 99608827 missense variant G/A snv 1.6E-05 3.5E-05
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 1.000 2 1996 2013
dbSNP: rs199422221
rs199422221
1.000 0.080 4 99619094 missense variant A/T snv
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 1.000 2 2000 2013
dbSNP: rs199422222
rs199422222
1.000 0.080 4 99608977 missense variant G/T snv
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 1.000 2 2003 2013
dbSNP: rs755681036
rs755681036
1.000 0.080 4 99613134 frameshift variant T/- delins
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.700 1.000 2 1995 2008
dbSNP: rs1560614646
rs1560614646
1.000 0.080 4 99583431 stop gained A/T snv
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.700 1.000 1 2007 2007
dbSNP: rs1560621495
rs1560621495
1.000 0.080 4 99601674 missense variant T/A snv
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.700 1.000 1 2012 2012
dbSNP: rs767833468
rs767833468
1.000 0.080 4 99618993 missense variant G/A snv 4.0E-06
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 1.000 1 1996 2015