GNA12, G protein subunit alpha 12, 2768

N. diseases: 130; N. variants: 16
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: rs798502
rs798502 		1.000 0.040 7 2750246 intron variant A/C;G snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.800 1.000 3 2011 2017
dbSNP: rs798497
rs798497 		7 2756323 intron variant A/G snv 0.25
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 3 2010 2019
dbSNP: rs1182188
rs1182188 		0.827 0.120 7 2830351 intron variant T/C snv 0.26
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2009 2019
dbSNP: rs1182188
rs1182188 		0.827 0.120 7 2830351 intron variant T/C snv 0.26
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 2 2015 2016
dbSNP: rs798489
rs798489 		7 2762169 splice donor variant C/T snv 0.20
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2010 2019
dbSNP: rs1182180
rs1182180 		7 2833645 intron variant G/A;T snv 0.42
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1182188
rs1182188 		0.827 0.120 7 2830351 intron variant T/C snv 0.26
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1182188
rs1182188 		0.827 0.120 7 2830351 intron variant T/C snv 0.26
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2009 2009
dbSNP: rs1182188
rs1182188 		0.827 0.120 7 2830351 intron variant T/C snv 0.26
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1182188
rs1182188 		0.827 0.120 7 2830351 intron variant T/C snv 0.26
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1182188
rs1182188 		0.827 0.120 7 2830351 intron variant T/C snv 0.26
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1182188
rs1182188 		0.827 0.120 7 2830351 intron variant T/C snv 0.26
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs13226653
rs13226653 		7 2786022 intron variant G/A;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs201517448
rs201517448 		7 2842084 intron variant AGGAAGGAA/-;AGGAAGGAAAGGAAGGAA;AGGAAGGAAAGGAAGGAAAGGAAGGAAAGGAAGGAA delins 9.9E-03
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs2266925
rs2266925 		7 2823257 intron variant C/T snv 0.25
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs33932857
rs33932857 		7 2736084 intron variant G/A snv 0.29
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs35957220
rs35957220 		7 2772998 intron variant C/A;G snv
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.700 1.000 1 2019 2019
dbSNP: rs3831679
rs3831679 		7 2830954 intron variant AAAA/-;AA;AAA;AAAAA delins
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs71026567
rs71026567 		7 2831405 intron variant TTTTTTTTTTT/-;T;TT;TTTT;TTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT delins
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs71026567
rs71026567 		7 2831405 intron variant TTTTTTTTTTT/-;T;TT;TTTT;TTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT delins
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs771273709
rs771273709 		7 2812656 intron variant C/A snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs7777484
rs7777484 		7 2774637 intron variant A/G snv 0.38
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2015 2015
dbSNP: rs798489
rs798489 		7 2762169 splice donor variant C/T snv 0.20
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2010 2010
dbSNP: rs798489
rs798489 		7 2762169 splice donor variant C/T snv 0.20
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs798489
rs798489 		7 2762169 splice donor variant C/T snv 0.20
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2016 2016