ARID2, AT-rich interaction domain 2, 196528

N. diseases: 167; N. variants: 13
Disease: COFFIN-SIRIS SYNDROME 6 ×
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: rs772995852
rs772995852 		1.000 12 45852441 stop gained C/G;T snv 1.2E-05
CUI: C4540499
Disease: COFFIN-SIRIS SYNDROME 6
COFFIN-SIRIS SYNDROME 6 		0.700 1.000 1 2015 2015
dbSNP: rs1555139310
rs1555139310 		1.000 12 45730106 frameshift variant C/- delins
CUI: C4540499
Disease: COFFIN-SIRIS SYNDROME 6
COFFIN-SIRIS SYNDROME 6 		0.700 0
dbSNP: rs1555154946
rs1555154946 		0.827 0.120 12 45850644 stop gained C/T snv
CUI: C4540499
Disease: COFFIN-SIRIS SYNDROME 6
COFFIN-SIRIS SYNDROME 6 		0.700 0
dbSNP: rs1555155252
rs1555155252 		1.000 12 45851534 frameshift variant AG/- del
CUI: C4540499
Disease: COFFIN-SIRIS SYNDROME 6
COFFIN-SIRIS SYNDROME 6 		0.700 0
dbSNP: rs796052240
rs796052240 		1.000 12 45850659 frameshift variant G/- del
CUI: C4540499
Disease: COFFIN-SIRIS SYNDROME 6
COFFIN-SIRIS SYNDROME 6 		0.700 0
dbSNP: rs796052241
rs796052241 		1.000 12 45852564 frameshift variant C/- del
CUI: C4540499
Disease: COFFIN-SIRIS SYNDROME 6
COFFIN-SIRIS SYNDROME 6 		0.700 0
dbSNP: rs796052242
rs796052242 		1.000 12 45837325 stop gained T/A snv
CUI: C4540499
Disease: COFFIN-SIRIS SYNDROME 6
COFFIN-SIRIS SYNDROME 6 		0.700 0