Source: ALL

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: rs121917864
rs121917864
TLR2
0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		0.010 < 0.001 1 2020 2020
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		0.010 < 0.001 1 2020 2020
dbSNP: rs111200466
rs111200466
TLR2
1.000 0.080 4 153684312 5 prime UTR variant CGGCTGCTCGGCGTTCTCTCAGG/- delins 0.17
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 1.000 1 2019 2019
dbSNP: rs111200466
rs111200466
TLR2
1.000 0.080 4 153684312 5 prime UTR variant CGGCTGCTCGGCGTTCTCTCAGG/- delins 0.17
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 1.000 1 2019 2019
dbSNP: rs11938228
rs11938228
TLR2
0.882 0.120 4 153700794 intron variant C/A;T snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.010 < 0.001 1 2019 2019
dbSNP: rs1816702
rs1816702
TLR2
0.827 0.120 4 153688371 non coding transcript exon variant T/C snv 0.79
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1898830
rs1898830
TLR2
0.807 0.280 4 153687301 intron variant A/G snv 0.30
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2019 2019
dbSNP: rs1898830
rs1898830
TLR2
0.807 0.280 4 153687301 intron variant A/G snv 0.30
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 < 0.001 1 2019 2019
dbSNP: rs3804099
rs3804099
TLR2
0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48
CUI: C0032927
Disease: Precancerous Conditions
Precancerous Conditions 		0.010 1.000 1 2019 2019
dbSNP: rs3804100
rs3804100
TLR2
0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2019 2019
dbSNP: rs3804100
rs3804100
TLR2
0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02
CUI: C1832588
Disease: Chromosome 11p11.2 Deletion Syndrome
Chromosome 11p11.2 Deletion Syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs3804100
rs3804100
TLR2
0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02
CUI: C0026916
Disease: Mycobacterium avium-intracellulare Infection
Mycobacterium avium-intracellulare Infection 		0.010 1.000 1 2019 2019
dbSNP: rs3804100
rs3804100
TLR2
0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02
CUI: C0850666
Disease: Infection caused by Helicobacter pylori
Infection caused by Helicobacter pylori 		0.010 1.000 1 2019 2019
dbSNP: rs3804100
rs3804100
TLR2
0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.010 1.000 1 2019 2019
dbSNP: rs3804100
rs3804100
TLR2
0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs3804100
rs3804100
TLR2
0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02
CUI: C1849193
Disease: PEELING SKIN SYNDROME
PEELING SKIN SYNDROME 		0.010 1.000 1 2019 2019
dbSNP: rs3804100
rs3804100
TLR2
0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02
CUI: C0032927
Disease: Precancerous Conditions
Precancerous Conditions 		0.010 1.000 1 2019 2019
dbSNP: rs4696480
rs4696480
TLR2
0.716 0.400 4 153685974 intron variant T/A snv 0.45
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs4696480
rs4696480
TLR2
0.716 0.400 4 153685974 intron variant T/A snv 0.45
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.010 1.000 1 2019 2019
dbSNP: rs4696480
rs4696480
TLR2
0.716 0.400 4 153685974 intron variant T/A snv 0.45
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2019 2019
dbSNP: rs4696480
rs4696480
TLR2
0.716 0.400 4 153685974 intron variant T/A snv 0.45
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.010 1.000 1 2019 2019
dbSNP: rs5743705
rs5743705
TLR2
0.882 0.200 4 153705028 synonymous variant T/C snv 1.4E-02 5.1E-03
CUI: C1849193
Disease: PEELING SKIN SYNDROME
PEELING SKIN SYNDROME 		0.010 1.000 1 2019 2019
dbSNP: rs5743705
rs5743705
TLR2
0.882 0.200 4 153705028 synonymous variant T/C snv 1.4E-02 5.1E-03
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.010 1.000 1 2019 2019
dbSNP: rs5743705
rs5743705
TLR2
0.882 0.200 4 153705028 synonymous variant T/C snv 1.4E-02 5.1E-03
CUI: C1832588
Disease: Chromosome 11p11.2 Deletion Syndrome
Chromosome 11p11.2 Deletion Syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C4303092
Disease: Cystic echinococcosis
Cystic echinococcosis 		0.010 1.000 1 2019 2019