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: rs104894229
rs104894229
HRAS ; LRRC56
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 1.000 9 2005 2009
dbSNP: rs137854544
rs137854544
CTSA
0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 1.000 3 1996 2014
dbSNP: rs875989777
rs875989777
CTSA
0.851 0.320 20 45894704 frameshift variant AT/- delins
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 1.000 3 1996 2014
dbSNP: rs1057516264
rs1057516264
TPP1
0.776 0.280 11 6614968 frameshift variant C/-;CC delins
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0
dbSNP: rs1057518644
rs1057518644
HGSNAT
0.925 0.120 8 43192413 stop gained C/T snv
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0
dbSNP: rs1057518913
rs1057518913
EHMT1
0.851 0.320 9 137762822 splice donor variant T/C snv
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0
dbSNP: rs1060499681
rs1060499681
GNPTAB
0.882 0.200 12 101764303 frameshift variant C/- del
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0
dbSNP: rs1060499684
rs1060499684
GNPTAB
0.882 0.200 12 101753525 frameshift variant A/- del
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0
dbSNP: rs1060499691
rs1060499691
GNPTG
1.000 0.160 16 1361802 splice region variant G/A snv
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0
dbSNP: rs1085307993
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0
dbSNP: rs112543062
rs112543062
GNPTAB
0.851 0.280 12 101770161 missense variant T/C;G snv 1.2E-05
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0
dbSNP: rs140119177
rs140119177
FAM120AOS
0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0
dbSNP: rs1554901898
rs1554901898
TPP1
0.776 0.280 11 6616858 frameshift variant A/- delins
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0
dbSNP: rs1555269154
rs1555269154
GNPTAB
0.851 0.280 12 101761307 frameshift variant -/CTTTGTGA delins
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0
dbSNP: rs1555269488
rs1555269488
GNPTAB
0.882 0.200 12 101764241 frameshift variant -/A delins
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0
dbSNP: rs1555271865
rs1555271865
GNPTAB
0.925 0.160 12 101786204 frameshift variant -/T delins
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0
dbSNP: rs1555565492
rs1555565492
RAI1
0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0
dbSNP: rs1560755661
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0
dbSNP: rs1563322318
rs1563322318
ERI1
0.925 0.120 8 9018335 frameshift variant A/- delins
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0
dbSNP: rs1568486679
rs1568486679
SMARCA4
0.882 0.080 19 11021755 missense variant G/A snv
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0
dbSNP: rs1569548274
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0
dbSNP: rs200661329
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0
dbSNP: rs201128942
rs201128942
SNX14
0.851 0.120 6 85547112 stop gained C/A;T snv 2.4E-05 4.2E-05
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0
dbSNP: rs281864996
rs281864996
GNPTAB
0.807 0.280 12 101764363 frameshift variant CTTTT/-;CTTTTCTTTT delins 2.8E-05 7.0E-06
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0
dbSNP: rs387907145
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0