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: rs1169891186
rs1169891186
1.000 0.080 22 24322362 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0796179
Disease: Teebi syndrome
Teebi syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555874726
rs1555874726
1.000 0.080 22 24414562 missense variant G/A snv
CUI: C0796179
Disease: Teebi syndrome
Teebi syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1569420537
rs1569420537
1.000 0.080 22 24322178 inframe deletion ATACAC/- del
CUI: C0796179
Disease: Teebi syndrome
Teebi syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1569420568
rs1569420568
1.000 0.080 22 24322226 missense variant G/A snv
CUI: C0796179
Disease: Teebi syndrome
Teebi syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1569420590
rs1569420590
1.000 0.080 22 24322238 missense variant G/A snv
CUI: C0796179
Disease: Teebi syndrome
Teebi syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1569420596
rs1569420596
1.000 0.080 22 24322240 missense variant G/C snv
CUI: C0796179
Disease: Teebi syndrome
Teebi syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1569420632
rs1569420632
1.000 0.080 22 24322280 missense variant G/A snv
CUI: C0796179
Disease: Teebi syndrome
Teebi syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1569438496
rs1569438496
1.000 0.080 22 24369259 missense variant A/C snv
CUI: C0796179
Disease: Teebi syndrome
Teebi syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs786201030
rs786201030
0.925 0.160 22 24322169 missense variant A/C snv
CUI: C0796179
Disease: Teebi syndrome
Teebi syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0