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: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 1.000 1 2018 2018
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 1.000 1 2016 2016
dbSNP: rs587779351
rs587779351
XRCC4
0.851 0.200 5 83105046 missense variant T/C snv 1.6E-05
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 1.000 1 2014 2014
dbSNP: rs779027563
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 1.000 1 2017 2017
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs1060505041
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs1294950721
rs1294950721
JAG1
0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs1307997067
rs1307997067
TAX1BP3 ; P2RX5-TAX1BP3
0.851 0.320 17 3664199 missense variant A/C;G snv 4.0E-06 7.0E-06
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs1554196416
rs1554196416
PHIP ; IRAK1BP1
0.851 0.200 6 78958551 stop gained G/A snv
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs1554700718
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs1555955296
rs1555955296
CDKL5
0.742 0.320 X 18628716 stop gained C/T snv
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs1561964103
rs1561964103
TFAP2B
0.882 0.080 6 50836108 frameshift variant G/- delins
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs1569355102
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs386834055
rs386834055
VPS13B
0.925 0.320 8 99853469 frameshift variant -/A delins
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs387907145
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs61750420
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs61753219
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs786205124
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs879253753
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0