HTT, huntingtin, 3064

N. diseases: 188; N. variants: 32
Disease: LOPES-MACIEL-RODAN 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: rs768047421
rs768047421 		1.000 4 3131647 missense variant C/T snv 8.1E-05 3.5E-05
CUI: C4479491
Disease: LOPES-MACIEL-RODAN SYNDROME
LOPES-MACIEL-RODAN SYNDROME 		0.800 0
dbSNP: rs1060505028
rs1060505028 		1.000 4 3229927 missense variant T/A snv
CUI: C4479491
Disease: LOPES-MACIEL-RODAN SYNDROME
LOPES-MACIEL-RODAN SYNDROME 		0.700 0
dbSNP: rs1085307052
rs1085307052 		1.000 4 3229928 missense variant T/A snv
CUI: C4479491
Disease: LOPES-MACIEL-RODAN SYNDROME
LOPES-MACIEL-RODAN SYNDROME 		0.700 0
dbSNP: rs34315806
rs34315806 		1.000 4 3160307 missense variant C/T snv 5.6E-03 2.4E-02
CUI: C4479491
Disease: LOPES-MACIEL-RODAN SYNDROME
LOPES-MACIEL-RODAN SYNDROME 		0.700 0