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: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0
dbSNP: rs121918453
rs121918453
PTPN11
0.732 0.280 12 112450394 missense variant G/A;C;T snv
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0
dbSNP: rs121918454
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0
dbSNP: rs121918457
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0
dbSNP: rs121918460
rs121918460
PTPN11
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0
dbSNP: rs121918461
rs121918461
PTPN11
0.827 0.240 12 112450362 missense variant A/C;G;T snv
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0
dbSNP: rs121918467
rs121918467
PTPN11
0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0
dbSNP: rs137852814
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0
dbSNP: rs148677674
rs148677674
LZTR1
0.882 0.160 22 20994988 missense variant C/A;T snv 2.4E-05; 1.6E-04
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0
dbSNP: rs1554700718
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0
dbSNP: rs1567564042
rs1567564042
MYH3
0.827 0.120 17 10654924 stop gained A/C snv
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0
dbSNP: rs180177039
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0
dbSNP: rs397507545
rs397507545
PTPN11
0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0
dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
0.742 0.320 2 178589003 stop gained G/A;T snv
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0
dbSNP: rs557849165
rs557849165
MYH3
0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0
dbSNP: rs759125480
rs759125480
CEP120
0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0
dbSNP: rs771063992
rs771063992
DNAJC21
0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0