Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE ×
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: rs745854387
rs745854387 		1.000 4 95104515 missense variant C/A;T snv 4.0E-06
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.800 0
dbSNP: rs863225041
rs863225041 		0.925 0.080 4 95114733 missense variant T/C snv
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.800 0
dbSNP: rs1553941890
rs1553941890 		0.851 0.080 4 95129916 missense variant C/A snv
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.700 0
dbSNP: rs863223287
rs863223287 		1.000 4 95123819 frameshift variant GGACCTAT/- delins
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.700 0
dbSNP: rs863225042
rs863225042 		1.000 4 95129933 stop gained G/A snv
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.700 0