TTC21B, tetratricopeptide repeat domain 21B, 79809

N. diseases: 76; N. variants: 24
Disease: Majewski Syndrome ×
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: rs1553516687
rs1553516687 		1.000 0.080 2 165949615 missense variant G/T snv
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs759648976
rs759648976 		1.000 0.080 2 165953686 stop gained -/CACCCGC ins
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs79746977
rs79746977 		1.000 0.080 2 165907746 stop gained G/A snv 6.4E-05 9.1E-05
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0