Source: CLINVAR

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: rs1057516040
rs1057516040
NALCN
0.851 0.200 13 101292052 missense variant T/C snv
CUI: C3494422
Disease: Retrognathia
Retrognathia 		0.700 1.000 1 2016 2016
dbSNP: rs1057516029
rs1057516029
TRIO
0.882 0.160 5 14290809 stop gained G/T snv
CUI: C3494422
Disease: Retrognathia
Retrognathia 		0.700 0
dbSNP: rs1057516045
rs1057516045
LBR
0.925 0.160 1 225403404 stop gained G/A snv 1.6E-05
CUI: C3494422
Disease: Retrognathia
Retrognathia 		0.700 0
dbSNP: rs1114167291
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv
CUI: C3494422
Disease: Retrognathia
Retrognathia 		0.700 0
dbSNP: rs137852981
rs137852981
ZEB2
0.752 0.480 2 144399104 stop gained G/A snv
CUI: C3494422
Disease: Retrognathia
Retrognathia 		0.700 0
dbSNP: rs1553621496
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv
CUI: C3494422
Disease: Retrognathia
Retrognathia 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C3494422
Disease: Retrognathia
Retrognathia 		0.700 0
dbSNP: rs1566911709
rs1566911709
FBN1
0.742 0.240 15 48495502 frameshift variant T/- delins
CUI: C3494422
Disease: Retrognathia
Retrognathia 		0.700 0
dbSNP: rs1569548274
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins
CUI: C3494422
Disease: Retrognathia
Retrognathia 		0.700 0
dbSNP: rs763028380
rs763028380
ABCC8
0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C3494422
Disease: Retrognathia
Retrognathia 		0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C3494422
Disease: Retrognathia
Retrognathia 		0.700 0