Source: UNIPROT

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: rs137853077
rs137853077
STK11
1.000 0.160 19 1207113 missense variant T/C snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.810 1.000 8 1998 2019
dbSNP: rs1057520042
rs1057520042
STK11
1.000 0.160 19 1222988 missense variant G/C snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.800 1.000 14 1998 2017
dbSNP: rs137853082
rs137853082
STK11
1.000 0.160 19 1220700 stop gained G/A;C snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.800 1.000 14 1998 2017
dbSNP: rs121913315
rs121913315
STK11
0.882 0.160 19 1220488 missense variant G/A;T snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.800 1.000 8 1998 2014
dbSNP: rs730881979
rs730881979
STK11
1.000 0.160 19 1220434 missense variant G/A snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.800 1.000 6 1997 2017
dbSNP: rs121913315
rs121913315
STK11
0.882 0.160 19 1220488 missense variant G/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 0 1999 1999
dbSNP: rs137853080
rs137853080
STK11
1.000 0.040 19 1207058 missense variant T/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0
dbSNP: rs137853081
rs137853081
STK11
1.000 0.040 19 1219352 missense variant G/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0
dbSNP: rs786202431
rs786202431
STK11
1.000 0.160 19 1223007 missense variant C/G;T snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 8 1998 2011
dbSNP: rs137853078
rs137853078
STK11
0.925 0.120 19 1220396 missense variant G/A snv
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		0.700 1.000 3 1998 2008
dbSNP: rs1057520038
rs1057520038
STK11
0.925 0.160 19 1220627 missense variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs121913316
rs121913316
STK11
1.000 0.080 19 1220489 missense variant A/T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.700 0
dbSNP: rs121913317
rs121913317
STK11
1.000 0.080 19 1220503 stop gained G/A;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs121913322
rs121913322
STK11
0.882 0.120 19 1221320 missense variant C/A;G;T snv 2.9E-05; 1.2E-04
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma 		0.700 0
dbSNP: rs121913322
rs121913322
STK11
0.882 0.120 19 1221320 missense variant C/A;G;T snv 2.9E-05; 1.2E-04
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.700 0
dbSNP: rs121913322
rs121913322
STK11
0.882 0.120 19 1221320 missense variant C/A;G;T snv 2.9E-05; 1.2E-04
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs1555738372
rs1555738372
STK11
1.000 0.080 19 1220605 missense variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs367807476
rs367807476
STK11
1.000 0.080 19 1223035 missense variant C/G;T snv 9.2E-06 1.4E-05
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.700 0
dbSNP: rs587782835
rs587782835
STK11
1.000 0.080 19 1223164 missense variant C/A;T snv 4.1E-06; 1.7E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs59912467
rs59912467
STK11
0.790 0.120 19 1223126 missense variant C/G;T snv 5.2E-03; 4.1E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs929783669
rs929783669
STK11
1.000 0.080 19 1220674 missense variant T/C snv
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.700 0