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: rs1563686762
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 1.000 1 2019 2019
dbSNP: rs1064797103
rs1064797103
OTUD6B
0.827 0.280 8 91078597 missense variant A/G snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1554699491
rs1554699491
AGTPBP1
0.763 0.280 9 85596450 splice acceptor variant C/A snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1554700718
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs780631499
rs780631499
AGTPBP1
0.763 0.280 9 85588465 frameshift variant G/- del 4.0E-06 7.0E-06
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs121918494
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs12720458
rs12720458
KCNQ1
0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1555038029
rs1555038029
KMT2A
0.776 0.400 11 118477973 stop gained C/A snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1565295267
rs1565295267
MYRF ; TMEM258
0.827 0.360 11 61774051 missense variant C/A snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1555968941
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs63750687
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 1.000 1 2014 2014
dbSNP: rs1057518812
rs1057518812
FBN1
0.827 0.240 15 48430742 missense variant T/A snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1057518883
rs1057518883
FBN1
0.851 0.240 15 48415571 missense variant A/C snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1085308004
rs1085308004
FBN1
0.807 0.240 15 48425420 missense variant A/G snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs112550005
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs137854461
rs137854461
FBN1
0.790 0.280 15 48437026 missense variant T/C snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs137854466
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs137854467
rs137854467
FBN1
0.790 0.280 15 48600217 missense variant G/A snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1555397413
rs1555397413
FBN1
0.732 0.280 15 48470705 missense variant T/C snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1555398397
rs1555398397
FBN1
0.807 0.240 15 48485436 missense variant C/T snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs397515789
rs397515789
FBN1
0.776 0.240 15 48488112 splice donor variant C/A;T snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs727503057
rs727503057
FBN1
0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs761857514
rs761857514
FBN1
0.851 0.240 15 48452676 stop gained C/A;T snv 4.0E-06
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0