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