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: rs912001256
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 1.000 2 2004 2008
dbSNP: rs397517148
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs397517154
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs1558373252
rs1558373252
SOX11 ; LINC01248
0.790 0.120 2 5693013 frameshift variant T/- delins
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs1057518864
rs1057518864
TCF4
0.925 18 55350409 splice acceptor variant C/T snv
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs1163944538
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs1352010373
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs1555386022
rs1555386022
TRIP11
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0