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: rs1164484724
rs1164484724
MAN1B1
0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06
CUI: C0546964
Disease: Genu recurvatum
Genu recurvatum 		0.700 0
dbSNP: rs1568406407
rs1568406407
LTBP4
0.925 0.280 19 40611169 stop gained C/T snv
CUI: C0546964
Disease: Genu recurvatum
Genu recurvatum 		0.700 0
dbSNP: rs755604487
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv
CUI: C0546964
Disease: Genu recurvatum
Genu recurvatum 		0.700 0
dbSNP: rs886039795
rs886039795
TMEM256 ; TMEM256-PLSCR3
0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del
CUI: C0546964
Disease: Genu recurvatum
Genu recurvatum 		0.700 0