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: rs121913682
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.800 0.987 75 1998 2020
dbSNP: rs121913507
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.100 0.987 75 1998 2020
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.040 1.000 4 2005 2009
dbSNP: rs1057519710
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.020 1.000 2 2014 2017
dbSNP: rs121913506
rs121913506
KIT
0.677 0.320 4 54733154 missense variant G/A;C;T snv
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.020 1.000 2 2014 2017
dbSNP: rs121913521
rs121913521
KIT
0.790 0.120 4 54727447 missense variant T/A;C;G snv
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.020 1.000 2 2007 2017
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.010 1.000 1 2014 2014
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.010 1.000 1 2014 2014
dbSNP: rs144369407
rs144369407
KIT
1.000 0.080 4 54728031 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.010 1.000 1 2017 2017
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.010 1.000 1 2001 2001
dbSNP: rs3822214
rs3822214
KIT
0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.010 1.000 1 2019 2019