Source: BEFREE

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: 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