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: rs878853169
rs878853169
NBEA
1.000 0.160 13 35550528 stop gained C/T snv
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		0.700 1.000 1 2018 2018
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		0.700 0
dbSNP: rs397515789
rs397515789
FBN1
0.776 0.240 15 48488112 splice donor variant C/A;T snv
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		0.700 0