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: rs12720019
rs12720019
7 602083 intron variant C/T snv 0.56
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 1 2019 2019
dbSNP: rs35750745
rs35750745
7 631957 intron variant AAA/-;AA;AAAA;AAAAA delins
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
0.700 1.000 1 2016 2016
dbSNP: rs35750745
rs35750745
7 631957 intron variant AAA/-;AA;AAAA;AAAAA delins
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
0.700 1.000 1 2016 2016
dbSNP: rs71016890
rs71016890
7 617300 intron variant TTTTTTTTTTTT/-;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT delins
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 1 2016 2016
dbSNP: rs75444260
rs75444260
7 635944 intron variant A/G snv 8.5E-02
CUI: C0523697
Disease: Histidine measurement
Histidine measurement
0.700 1.000 1 2019 2019
dbSNP: rs75444260
rs75444260
7 635944 intron variant A/G snv 8.5E-02
CUI: C0523957
Disease: Tryptophan measurement
Tryptophan measurement
0.700 1.000 1 2019 2019
dbSNP: rs75444260
rs75444260
7 635944 intron variant A/G snv 8.5E-02
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement
0.700 1.000 1 2019 2019
dbSNP: rs9330360
rs9330360
7 559111 intron variant A/G snv 0.53
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs9719461
rs9719461
1.000 0.040 7 593078 intron variant C/T snv 0.72
CUI: C0042345
Disease: Varicosity
Varicosity
Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1554248794
rs1554248794
7 727077 frameshift variant CGCCGCGCGCT/- delins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1554248887
rs1554248887
7 727209 splice donor variant CCTGGACGAC/- del
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0