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: rs2184464
rs2184464
1 178880354 intron variant G/A snv 0.21
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs2297687
rs2297687
1 178851192 synonymous variant G/A snv 1.5E-02 8.2E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2012 2012
dbSNP: rs4651005
rs4651005
1 178750171 intron variant C/T snv 0.24
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
0.700 1.000 1 2019 2019
dbSNP: rs4651005
rs4651005
1 178750171 intron variant C/T snv 0.24
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.700 1.000 1 2019 2019
dbSNP: rs6425501
rs6425501
1 178749401 intron variant A/G snv 0.39
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.700 1.000 1 2019 2019
dbSNP: rs1292187704
rs1292187704
1.000 0.080 1 178865019 missense variant G/A snv 7.0E-06
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2010 2010