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: rs869312707
rs869312707
MED13L
0.925 0.160 12 115963422 missense variant G/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs869312707
rs869312707
MED13L
0.925 0.160 12 115963422 missense variant G/A snv
CUI: C4225208
Disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		0.700 0
dbSNP: rs869312707
rs869312707
MED13L
0.925 0.160 12 115963422 missense variant G/A snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs869312707
rs869312707
MED13L
0.925 0.160 12 115963422 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0