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: rs121908403
rs121908403
SPINT2
0.827 0.200 19 38290215 missense variant A/G snv 2.1E-04 1.4E-04
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		0.820 1.000 2 2009 2018
dbSNP: rs8102476
rs8102476
SPINT2
0.776 0.240 19 38244973 intron variant C/T snv 0.40
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.710 1.000 1 2009 2018
dbSNP: rs8102476
rs8102476
SPINT2
0.776 0.240 19 38244973 intron variant C/T snv 0.40
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.710 1.000 1 2009 2013
dbSNP: rs121908403
rs121908403
SPINT2
0.827 0.200 19 38290215 missense variant A/G snv 2.1E-04 1.4E-04
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.010 1.000 1 2016 2016
dbSNP: rs121908403
rs121908403
SPINT2
0.827 0.200 19 38290215 missense variant A/G snv 2.1E-04 1.4E-04
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		0.010 1.000 1 2018 2018
dbSNP: rs121908403
rs121908403
SPINT2
0.827 0.200 19 38290215 missense variant A/G snv 2.1E-04 1.4E-04
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		0.010 1.000 1 2018 2018
dbSNP: rs121908403
rs121908403
SPINT2
0.827 0.200 19 38290215 missense variant A/G snv 2.1E-04 1.4E-04
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		0.010 1.000 1 2018 2018
dbSNP: rs12611084
rs12611084
SPINT2 ; PPP1R14A
0.925 0.080 19 38255632 intron variant A/C;G;T snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs12611084
rs12611084
SPINT2 ; PPP1R14A
0.925 0.080 19 38255632 intron variant A/C;G;T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2017 2017
dbSNP: rs12979618
rs12979618
SPINT2
19 38269930 intron variant G/T snv 0.27
CUI: C0020097
Disease: HTLV-I Infections
HTLV-I Infections 		0.010 1.000 1 2014 2014
dbSNP: rs1353175955
rs1353175955
SPINT2
0.925 0.200 19 38290170 missense variant G/A snv 4.0E-06
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		0.010 1.000 1 2017 2017
dbSNP: rs1353175955
rs1353175955
SPINT2
0.925 0.200 19 38290170 missense variant G/A snv 4.0E-06
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		0.010 1.000 1 2017 2017
dbSNP: rs141683432
rs141683432
SPINT2
0.882 0.120 19 38287929 missense variant C/T snv 1.6E-03 1.9E-03
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 1.000 1 2005 2005
dbSNP: rs141683432
rs141683432
SPINT2
0.882 0.120 19 38287929 missense variant C/T snv 1.6E-03 1.9E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2005 2005
dbSNP: rs141683432
rs141683432
SPINT2
0.882 0.120 19 38287929 missense variant C/T snv 1.6E-03 1.9E-03
CUI: C2931852
Disease: Clear-cell metastatic renal cell carcinoma
Clear-cell metastatic renal cell carcinoma 		0.010 1.000 1 2005 2005
dbSNP: rs141683432
rs141683432
SPINT2
0.882 0.120 19 38287929 missense variant C/T snv 1.6E-03 1.9E-03
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2005 2005
dbSNP: rs8102476
rs8102476
SPINT2
0.776 0.240 19 38244973 intron variant C/T snv 0.40
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2013 2013
dbSNP: rs8102476
rs8102476
SPINT2
0.776 0.240 19 38244973 intron variant C/T snv 0.40
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2013 2013
dbSNP: rs8102476
rs8102476
SPINT2
0.776 0.240 19 38244973 intron variant C/T snv 0.40
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2013 2013
dbSNP: rs8102476
rs8102476
SPINT2
0.776 0.240 19 38244973 intron variant C/T snv 0.40
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs8102476
rs8102476
SPINT2
0.776 0.240 19 38244973 intron variant C/T snv 0.40
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2013 2013