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: rs2293889
rs2293889
8 115586972 intron variant T/C;G snv 2.0E-04; 0.65
High density lipoprotein measurement
0.800 1.000 4 2010 2018
dbSNP: rs1057518972
rs1057518972
0.827 0.200 8 115418359 missense variant C/T snv
Trichorhinophalangeal Syndrome, Type III
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.800 1.000 3 2008 2017
dbSNP: rs121908435
rs121908435
0.925 0.160 8 115418391 missense variant C/G;T snv
Trichorhinophalangeal Syndrome, Type III
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.800 1.000 3 2001 2017
dbSNP: rs121908433
rs121908433
1.000 0.160 8 115418413 missense variant T/G snv
Trichorhinophalangeal Syndrome, Type III
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.800 1.000 2 2001 2002
dbSNP: rs28939069
rs28939069
0.925 0.160 8 115415015 missense variant G/A snv
Trichorhinophalangeal dysplasia type I
Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.800 1.000 2 2004 2015
dbSNP: rs28939070
rs28939070
0.925 0.160 8 115415014 missense variant C/T snv
Trichorhinophalangeal dysplasia type I
Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.800 1.000 2 2004 2015
dbSNP: rs2737229
rs2737229
8 115636338 intron variant A/C snv 0.48
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.800 1.000 1 2010 2010
dbSNP: rs800586
rs800586
1.000 0.120 8 115801679 intron variant G/A snv 0.54
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs1554596397
rs1554596397
1.000 8 115604881 stop gained A/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 5 2000 2015
dbSNP: rs1554596397
rs1554596397
1.000 8 115604881 stop gained A/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 5 2000 2015
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
Trichorhinophalangeal dysplasia type I
Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 2001 2017
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
Trichorhinophalangeal Syndrome, Type III
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 2001 2017
dbSNP: rs1057518972
rs1057518972
0.827 0.200 8 115418359 missense variant C/T snv
Trichorhinophalangeal dysplasia type I
Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 4 2008 2017
dbSNP: rs121908435
rs121908435
0.925 0.160 8 115418391 missense variant C/G;T snv
Trichorhinophalangeal dysplasia type I
Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 2 2015 2017
dbSNP: rs2293889
rs2293889
8 115586972 intron variant T/C;G snv 2.0E-04; 0.65
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 2 2010 2013
dbSNP: rs2737252
rs2737252
8 115651671 intron variant G/A snv 0.24
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 2 2018 2018
dbSNP: rs751565386
rs751565386
0.925 0.160 8 115418392 stop gained G/A;T snv 8.0E-06
Trichorhinophalangeal Syndrome, Type III
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 2 2015 2017
dbSNP: rs751565386
rs751565386
0.925 0.160 8 115418392 stop gained G/A;T snv 8.0E-06
Trichorhinophalangeal dysplasia type I
Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 2 2015 2017
dbSNP: rs10505258
rs10505258
8 115590628 intron variant T/A;C snv
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs11778934
rs11778934
8 115539178 intron variant C/A;G snv
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2019 2019
dbSNP: rs121908431
rs121908431
1.000 0.080 8 115604099 stop gained G/A;C snv 8.0E-06
Trichorhinophalangeal dysplasia type I
Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs121908432
rs121908432
1.000 0.080 8 115587144 stop gained G/A snv
Trichorhinophalangeal dysplasia type I
Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs121908436
rs121908436
0.925 0.160 8 115418358 missense variant G/A snv
Trichorhinophalangeal dysplasia type I
Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs13270346
rs13270346
8 115432023 intron variant T/A snv 0.24
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs13271228
rs13271228
8 115585182 intron variant T/A;G snv
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure
0.700 1.000 1 2016 2016