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: rs281875226
rs281875226
1.000 19 11019661 missense variant C/T snv
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4
0.800 1.000 1 2012 2012
dbSNP: rs281875227
rs281875227
1.000 19 11021761 missense variant C/T snv
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4
0.800 1.000 1 2012 2012
dbSNP: rs281875228
rs281875228
1.000 19 11021869 missense variant C/T snv
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4
0.800 1.000 1 2012 2012
dbSNP: rs281875229
rs281875229
1.000 19 11024389 missense variant T/C snv
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4
0.800 1.000 1 2012 2012
dbSNP: rs281875230
rs281875230
1.000 19 11030816 missense variant C/G snv
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4
0.800 1.000 1 2012 2012
dbSNP: rs1060499936
rs1060499936
1.000 19 11021959 missense variant G/A snv
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4
0.700 0
dbSNP: rs1568456200
rs1568456200
0.925 0.040 19 11003338 splice donor variant TGAAGTAGCTCCGAGGTCTGATAGTGAAGAAAGTGGCTCAGAAGAAGAGGAAGAGGTA/- delins
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4
0.700 0
dbSNP: rs1568486679
rs1568486679
0.882 0.080 19 11021755 missense variant G/A snv
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4
0.700 0
dbSNP: rs587779750
rs587779750
1.000 19 11034171 missense variant C/T snv 7.0E-06
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4
0.700 0
dbSNP: rs770014321
rs770014321
1.000 19 11025467 missense variant C/A;T snv 4.0E-06
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4
0.700 0
dbSNP: rs797045981
rs797045981
0.925 0.040 19 11023594 missense variant G/A snv
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4
0.700 0
dbSNP: rs797045984
rs797045984
1.000 19 11033477 missense variant C/G;T snv 4.0E-06
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4
0.700 0
dbSNP: rs876657378
rs876657378
1.000 19 10996250 inframe deletion AAG/- delins
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4
0.700 0