DPF2, double PHD fingers 2, 5977

N. diseases: 99; N. variants: 6
Disease: COFFIN-SIRIS SYNDROME 7 ×
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: rs1555031372
rs1555031372 		0.925 0.280 11 65345981 missense variant G/T snv
CUI: C4747954
Disease: COFFIN-SIRIS SYNDROME 7
COFFIN-SIRIS SYNDROME 7 		0.800 1.000 1 2018 2018
dbSNP: rs1555031500
rs1555031500 		1.000 11 65346332 missense variant C/G snv
CUI: C4747954
Disease: COFFIN-SIRIS SYNDROME 7
COFFIN-SIRIS SYNDROME 7 		0.800 1.000 1 2018 2018
dbSNP: rs1555032044
rs1555032044 		1.000 11 65348869 missense variant A/G snv
CUI: C4747954
Disease: COFFIN-SIRIS SYNDROME 7
COFFIN-SIRIS SYNDROME 7 		0.800 1.000 1 2018 2018
dbSNP: rs1555032051
rs1555032051 		1.000 11 65348881 missense variant G/A snv
CUI: C4747954
Disease: COFFIN-SIRIS SYNDROME 7
COFFIN-SIRIS SYNDROME 7 		0.800 1.000 1 2018 2018
dbSNP: rs1555032074
rs1555032074 		1.000 11 65348932 splice donor variant G/A snv
CUI: C4747954
Disease: COFFIN-SIRIS SYNDROME 7
COFFIN-SIRIS SYNDROME 7 		0.700 0