MSL3, MSL complex subunit 3, 10943

N. diseases: 32; N. variants: 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: rs1555907215
rs1555907215
1.000 X 11768608 frameshift variant C/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 7 2005 2017
dbSNP: rs1555907215
rs1555907215
1.000 X 11768608 frameshift variant C/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 7 2005 2017
dbSNP: rs1555906707
rs1555906707
X 11765481 missense variant T/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 0
dbSNP: rs1555906768
rs1555906768
X 11765594 stop gained C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 0
dbSNP: rs1555906781
rs1555906781
X 11765622 frameshift variant TG/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 0
dbSNP: rs1555907620
rs1555907620
X 11772246 stop gained C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 0
dbSNP: rs1555907623
rs1555907623
X 11772247 frameshift variant ATTGTTTG/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 0
dbSNP: rs1555907626
rs1555907626
X 11772256 splice donor variant G/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 0
dbSNP: rs1555907653
rs1555907653
X 11772674 frameshift variant -/C delins
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 0
dbSNP: rs1555907864
rs1555907864
X 11775029 frameshift variant GC/A delins
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 0