Source: ALL

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: rs61816761
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
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: rs759125480
rs759125480
CEP120
0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05
CUI: C0521525
Disease: Short neck
Short neck 		0.700 0
dbSNP: rs1135401744
rs1135401744
KYNU
0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04
CUI: C0521525
Disease: Short neck
Short neck 		0.700 1.000 1 2017 2017