Disease: ANAUXETIC DYSPLASIA 2 ×
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: rs1060505023
rs1060505023 		1.000 8 98148848 missense variant C/T snv
CUI: C4479357
Disease: ANAUXETIC DYSPLASIA 2
ANAUXETIC DYSPLASIA 2 		0.800 1.000 3 2011 2017
dbSNP: rs1060505025
rs1060505025 		1.000 8 98140825 missense variant G/T snv
CUI: C4479357
Disease: ANAUXETIC DYSPLASIA 2
ANAUXETIC DYSPLASIA 2 		0.800 1.000 3 2011 2017
dbSNP: rs374828868
rs374828868 		1.000 8 98148852 missense variant G/A snv 2.8E-05 7.0E-06
CUI: C4479357
Disease: ANAUXETIC DYSPLASIA 2
ANAUXETIC DYSPLASIA 2 		0.800 1.000 3 2011 2017
dbSNP: rs1060505024
rs1060505024 		1.000 8 98157800 frameshift variant C/- delins
CUI: C4479357
Disease: ANAUXETIC DYSPLASIA 2
ANAUXETIC DYSPLASIA 2 		0.700 0
dbSNP: rs769183311
rs769183311 		1.000 8 98140867 missense variant C/G;T snv 8.0E-06; 4.0E-06
CUI: C4479357
Disease: ANAUXETIC DYSPLASIA 2
ANAUXETIC DYSPLASIA 2 		0.700 0