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: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C4722419
Disease: Extrapulmonary Small Cell Carcinoma
Extrapulmonary Small Cell Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C4722419
Disease: Extrapulmonary Small Cell Carcinoma
Extrapulmonary Small Cell Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs1138272
rs1138272
GSTP1
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
CUI: C4722419
Disease: Extrapulmonary Small Cell Carcinoma
Extrapulmonary Small Cell Carcinoma 		0.010 < 0.001 1 2013 2013
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C4722419
Disease: Extrapulmonary Small Cell Carcinoma
Extrapulmonary Small Cell Carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs1695
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C4722419
Disease: Extrapulmonary Small Cell Carcinoma
Extrapulmonary Small Cell Carcinoma 		0.010 < 0.001 1 2013 2013
dbSNP: rs1979277
rs1979277
SHMT1
0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C4722419
Disease: Extrapulmonary Small Cell Carcinoma
Extrapulmonary Small Cell Carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs2252070
rs2252070
MMP13
0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68
CUI: C4722419
Disease: Extrapulmonary Small Cell Carcinoma
Extrapulmonary Small Cell Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C4722419
Disease: Extrapulmonary Small Cell Carcinoma
Extrapulmonary Small Cell Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C4722419
Disease: Extrapulmonary Small Cell Carcinoma
Extrapulmonary Small Cell Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs920778
rs920778
HOTAIR
0.633 0.480 12 53966448 intron variant G/A snv 0.57
CUI: C4722419
Disease: Extrapulmonary Small Cell Carcinoma
Extrapulmonary Small Cell Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs937283
rs937283
MDM2
0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37
CUI: C4722419
Disease: Extrapulmonary Small Cell Carcinoma
Extrapulmonary Small Cell Carcinoma 		0.010 1.000 1 2013 2013