Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121964863
rs121964863
1.000 0.120 1 162776341 missense variant C/T snv
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.810 1.000 3 2009 2016
dbSNP: rs121964865
rs121964865
1.000 0.120 1 162776225 missense variant C/A;T snv 4.0E-06
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.810 1.000 3 2009 2016
dbSNP: rs397514747
rs397514747
1.000 0.120 1 162754775 missense variant G/A snv
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.810 1.000 3 2009 2016
dbSNP: rs121964864
rs121964864
1.000 0.120 1 162776264 missense variant T/G snv
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 3 2009 2016
dbSNP: rs267598140
rs267598140
0.925 0.080 1 162778600 missense variant T/A;G snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
Neoplasms 0.700 1.000 3 2008 2013
dbSNP: rs1057519789
rs1057519789
1.000 0.080 1 162775707 missense variant A/G;T snv 4.0E-06
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1057519790
rs1057519790
1.000 0.080 1 162778617 missense variant G/T snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2011 2011
dbSNP: rs10917587
rs10917587
1 162691673 intron variant A/G snv 8.6E-02
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2011 2011
dbSNP: rs144594252
rs144594252
0.882 0.080 1 162754625 missense variant C/G snv 6.8E-05 5.6E-05
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2011 2011
dbSNP: rs17433710
rs17433710
1.000 0.120 1 162702221 intron variant T/C snv 0.12
CUI: C0013312
Disease: Dupuytren Contracture
Dupuytren Contracture
Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1780007
rs1780007
1 162778235 intron variant A/C snv 0.62
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2011 2011
dbSNP: rs2684866
rs2684866
1 162756491 intron variant A/C snv 0.61
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2011 2011
dbSNP: rs2805025
rs2805025
1 162762701 intron variant G/A snv 0.61
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2011 2011
dbSNP: rs2806424
rs2806424
1 162721669 intron variant G/A snv 0.58
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019
dbSNP: rs376303676
rs376303676
1.000 0.080 1 162759881 missense variant G/A;T snv 8.0E-06
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2011 2011
dbSNP: rs578015216
rs578015216
1.000 0.080 1 162759840 missense variant T/C;G snv 2.8E-05
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2011 2011
dbSNP: rs6697469
rs6697469
1 162688983 intron variant C/G snv 0.16
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs6702820
rs6702820
1 162634091 intron variant A/G snv 0.18
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs7512080
rs7512080
1.000 0.080 1 162639948 intron variant A/G snv 4.6E-02
CUI: C0346388
Disease: Malignant melanoma of choroid
Malignant melanoma of choroid
Neoplasms; Eye Diseases 0.700 1.000 1 2020 2020
dbSNP: rs1558079436
rs1558079436
0.925 0.040 1 162773569 missense variant T/C snv
CUI: C3149494
Disease: KELOID FORMATION
KELOID FORMATION
0.700 0
dbSNP: rs1558079436
rs1558079436
0.925 0.040 1 162773569 missense variant T/C snv
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand
Musculoskeletal Diseases 0.700 0
dbSNP: rs1558079436
rs1558079436
0.925 0.040 1 162773569 missense variant T/C snv
Osteolysis involving bones of the feet
Musculoskeletal Diseases 0.700 0
dbSNP: rs1558081627
rs1558081627
1.000 0.040 1 162776306 missense variant A/G snv
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand
Musculoskeletal Diseases 0.700 0
dbSNP: rs1558081627
rs1558081627
1.000 0.040 1 162776306 missense variant A/G snv
CUI: C3149494
Disease: KELOID FORMATION
KELOID FORMATION
0.700 0
dbSNP: rs115169993
rs115169993
1.000 0.040 1 162772032 missense variant G/A snv 7.8E-04 2.9E-03
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
Neoplasms 0.010 1.000 1 2013 2013