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: rs137854539
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.700 0
dbSNP: rs1569509136
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.700 0
dbSNP: rs727503109
rs727503109
KRAS
0.752 0.320 12 25245277 missense variant T/C snv
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.700 0
dbSNP: rs727504662
rs727504662
KRAS
0.925 0.160 12 25227310 missense variant T/A snv
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.010 1.000 1 2012 2012