SEPTIN9, septin 9, 10801

N. diseases: 150; N. variants: 26
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: rs448203
rs448203 		17 77498983 3 prime UTR variant T/C snv 0.57 0.54
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs9038
rs9038 		17 77499315 3 prime UTR variant T/C snv 0.53 0.48
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs1436138
rs1436138 		17 77320798 intron variant A/G snv 0.42
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs1436138
rs1436138 		17 77320798 intron variant A/G snv 0.42
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1656794
rs1656794 		17 77390827 intron variant A/G;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs4789452
rs4789452 		17 77376768 non coding transcript exon variant G/A;C snv 0.40
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs9909247
rs9909247 		17 77378449 intron variant T/C snv 0.22
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019