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: rs121908106
rs121908106
MYO5B
0.925 0.200 18 49936276 missense variant G/A snv 4.3E-06
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		0.820 1.000 7 2008 2018
dbSNP: rs121908103
rs121908103
MYO5B
1.000 0.200 18 50036982 missense variant A/C;G snv
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		0.800 1.000 6 2008 2014
dbSNP: rs121908105
rs121908105
MYO5B
1.000 0.200 18 49936289 missense variant G/A;C;T snv 1.7E-05; 1.3E-05; 2.2E-05
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		0.800 1.000 6 2008 2014
dbSNP: rs1555648414
rs1555648414
MYO5B
1.000 0.200 18 49974470 missense variant C/T snv
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		0.700 1.000 6 2008 2014
dbSNP: rs727505394
rs727505394
MYO5B
1.000 0.200 18 49936250 splice donor variant A/G;T snv 4.7E-06
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		0.700 1.000 1 2008 2008
dbSNP: rs727505395
rs727505395
MYO5B
1.000 0.200 18 49878940 splice region variant C/T snv
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		0.700 1.000 1 2008 2008
dbSNP: rs1053713532
rs1053713532
MYO5B
1.000 0.200 18 49992388 missense variant C/T snv 7.0E-06
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		0.700 0
dbSNP: rs121908104
rs121908104
MYO5B
1.000 0.200 18 49974547 stop gained C/T snv 1.2E-05 2.8E-05
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		0.700 0
dbSNP: rs1283622290
rs1283622290
MYO5B
1.000 0.200 18 49974369 missense variant C/T snv 7.0E-06
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		0.700 0
dbSNP: rs1324907355
rs1324907355
MYO5B
1.000 0.200 18 50001365 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		0.700 0
dbSNP: rs1555793103
rs1555793103
MYO5B ; SNHG22
0.882 0.240 18 49836710 splice donor variant C/G snv
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		0.700 0
dbSNP: rs1555793199
rs1555793199
MYO5B ; SNHG22
0.882 0.240 18 49837750 frameshift variant G/- delins
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		0.700 0
dbSNP: rs1568049625
rs1568049625
MYO5B
1.000 0.200 18 49963032 splice acceptor variant T/C snv
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		0.700 0
dbSNP: rs753558336
rs753558336
MYO5B
1.000 0.200 18 49984718 missense variant C/T snv 6.8E-05 2.8E-05
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		0.700 0
dbSNP: rs762039116
rs762039116
MYO5B ; SNHG22
1.000 0.200 18 49839231 stop gained C/A;T snv 4.0E-06; 2.4E-05
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		0.700 0