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: rs121913482
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		0.700 0
dbSNP: rs1260978141
rs1260978141
DYNC2H1
1.000 0.120 11 103125293 stop gained C/T snv 4.5E-06
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		0.700 0
dbSNP: rs137853027
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		0.700 0
dbSNP: rs1554699491
rs1554699491
AGTPBP1
0.763 0.280 9 85596450 splice acceptor variant C/A snv
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		0.700 0
dbSNP: rs780631499
rs780631499
AGTPBP1
0.763 0.280 9 85588465 frameshift variant G/- del 4.0E-06 7.0E-06
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		0.700 0
dbSNP: rs797045412
rs797045412
BICD2
0.776 0.280 9 92718565 missense variant G/A;T snv
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		0.700 0