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: rs886039795
rs886039795
TMEM256 ; TMEM256-PLSCR3
0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del
CUI: C0521525
Disease: Short neck
Short neck 		0.700 0
dbSNP: rs760929207
rs760929207
OBSL1
0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06
CUI: C0521525
Disease: Short neck
Short neck 		0.700 1.000 1 2019 2019
dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0521525
Disease: Short neck
Short neck 		0.700 0
dbSNP: rs557849165
rs557849165
MYH3
0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03
CUI: C0521525
Disease: Short neck
Short neck 		0.700 0