Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555031372
rs1555031372
DPF2
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
DPF2
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
DPF2
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
DPF2
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: rs1555031372
rs1555031372
DPF2
0.925 0.280 11 65345981 missense variant G/T snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 1.000 1 2018 2018
dbSNP: rs1555031372
rs1555031372
DPF2
0.925 0.280 11 65345981 missense variant G/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2018 2018
dbSNP: rs7950149
rs7950149
DPF2
11 65347696 non coding transcript exon variant T/C snv 0.12
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs1555032074
rs1555032074
DPF2
1.000 11 65348932 splice donor variant G/A snv
CUI: C4747954
Disease: COFFIN-SIRIS SYNDROME 7
COFFIN-SIRIS SYNDROME 7 		0.700 0