ARMC9, armadillo repeat containing 9, 80210

N. diseases: 80; N. variants: 9
Disease: JOUBERT SYNDROME 30 ×
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: rs759799287
rs759799287 		1.000 2 231262306 missense variant C/A;T snv 4.0E-06; 5.2E-05
CUI: C4539937
Disease: JOUBERT SYNDROME 30
JOUBERT SYNDROME 30 		0.800 1.000 1 2017 2017
dbSNP: rs1114167449
rs1114167449 		1.000 2 231282066 missense variant C/T snv 4.0E-06
CUI: C4539937
Disease: JOUBERT SYNDROME 30
JOUBERT SYNDROME 30 		0.800 0
dbSNP: rs750247691
rs750247691 		1.000 2 231214858 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C4539937
Disease: JOUBERT SYNDROME 30
JOUBERT SYNDROME 30 		0.800 0
dbSNP: rs753432312
rs753432312 		1.000 2 231276637 missense variant C/T snv 8.0E-06
CUI: C4539937
Disease: JOUBERT SYNDROME 30
JOUBERT SYNDROME 30 		0.800 0
dbSNP: rs780265931
rs780265931 		1.000 2 231276775 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C4539937
Disease: JOUBERT SYNDROME 30
JOUBERT SYNDROME 30 		0.800 0
dbSNP: rs1114167448
rs1114167448 		1.000 2 231276776 splice donor variant G/C snv
CUI: C4539937
Disease: JOUBERT SYNDROME 30
JOUBERT SYNDROME 30 		0.700 0
dbSNP: rs1553611393
rs1553611393 		1.000 2 231272951 splice donor variant CGCCTCTACCTTGCCCAGAACACAAAGGTGCTGCAGATGCTGGAGGGAAGGCTGAAGGAGGAGGACAAGGATATCATCACCAGGGAGAATGTTCTTGGGGCCCTGCAGAAGTTCAGTCTCAGGT/- delins
CUI: C4539937
Disease: JOUBERT SYNDROME 30
JOUBERT SYNDROME 30 		0.700 0
dbSNP: rs372770167
rs372770167 		1.000 2 231214912 stop gained C/A;T snv 2.4E-05; 1.2E-05
CUI: C4539937
Disease: JOUBERT SYNDROME 30
JOUBERT SYNDROME 30 		0.700 0
dbSNP: rs766572502
rs766572502 		1.000 2 231240041 splice region variant G/A snv 8.1E-06 7.0E-06
CUI: C4539937
Disease: JOUBERT SYNDROME 30
JOUBERT SYNDROME 30 		0.700 0