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: rs1553749681
rs1553749681
DOCK3
0.925 3 51064514 stop gained C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 23 2000 2018
dbSNP: rs1560212751
rs1560212751
DOCK3
1.000 3 51208772 splice acceptor variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs1560414254
rs1560414254
DOCK3
1.000 3 51312486 frameshift variant ACTT/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0