Source: ALL

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: rs1057518806
rs1057518806
HMBS
1.000 0.040 11 119093155 frameshift variant G/- del
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.700 0
dbSNP: rs1057518886
rs1057518886
HMBS
11 119090043 frameshift variant C/- delins
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.700 0
dbSNP: rs1163944538
rs1163944538
TMEM94
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
TMEM94
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
ATXN2 ; SH2B3
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
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.700 0
dbSNP: rs1554995260
rs1554995260
SERPING1
1.000 0.120 11 57602098 frameshift variant -/T delins
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.700 0
dbSNP: rs1555206402
rs1555206402
HMBS
0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.700 0
dbSNP: rs1555738475
rs1555738475
STK11
0.776 0.400 19 1220707 frameshift variant G/- delins
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.700 0
dbSNP: rs28934907
rs28934907
MECP2
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
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.700 0
dbSNP: rs11466023
rs11466023
MEFV
0.827 0.320 16 3249586 missense variant G/A;T snv 1.5E-02; 4.0E-05
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.010 1.000 1 2017 2017
dbSNP: rs224222
rs224222
MEFV
0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.010 1.000 1 2014 2014
dbSNP: rs28940580
rs28940580
MEFV
0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.010 1.000 1 2019 2019
dbSNP: rs3743930
rs3743930
MEFV
0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.010 1.000 1 2010 2010
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.010 1.000 1 2010 2010
dbSNP: rs6795970
rs6795970
SCN10A
0.807 0.200 3 38725184 missense variant A/G snv 0.65 0.70
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.010 1.000 1 2019 2019
dbSNP: rs8133052
rs8133052
CBR3 ; CBR3-AS1
0.925 0.120 21 36135203 missense variant G/A;C snv 0.44
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.010 1.000 1 2020 2020