KLHL41, kelch like family member 41, 10324

N. diseases: 94; N. variants: 7
Disease: NEMALINE MYOPATHY 9 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1247404453
rs1247404453 		1.000 2 169509943 frameshift variant TTACTTCC/- delins 4.0E-06
CUI: C3810384
Disease: NEMALINE MYOPATHY 9
NEMALINE MYOPATHY 9 		0.700 0
dbSNP: rs730882235
rs730882235 		0.925 0.080 2 169510415 frameshift variant A/- delins
CUI: C3810384
Disease: NEMALINE MYOPATHY 9
NEMALINE MYOPATHY 9 		0.700 0
dbSNP: rs730882257
rs730882257 		1.000 2 169510237 inframe insertion T/ACTC delins
CUI: C3810384
Disease: NEMALINE MYOPATHY 9
NEMALINE MYOPATHY 9 		0.700 0
dbSNP: rs730882258
rs730882258 		1.000 2 169525622 frameshift variant AGGAAATA/- delins
CUI: C3810384
Disease: NEMALINE MYOPATHY 9
NEMALINE MYOPATHY 9 		0.700 0
dbSNP: rs730882259
rs730882259 		1.000 2 169510353 inframe deletion AAG/- delins
CUI: C3810384
Disease: NEMALINE MYOPATHY 9
NEMALINE MYOPATHY 9 		0.700 0
dbSNP: rs730882260
rs730882260 		1.000 2 169514701 missense variant C/T snv 4.0E-06
CUI: C3810384
Disease: NEMALINE MYOPATHY 9
NEMALINE MYOPATHY 9 		0.700 0
dbSNP: rs775513051
rs775513051 		1.000 2 169509985 frameshift variant -/A;AAAAAAA;AAAAAAAAAAA delins
CUI: C3810384
Disease: NEMALINE MYOPATHY 9
NEMALINE MYOPATHY 9 		0.700 0