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: rs878853164
rs878853164
KMT5B
1.000 0.160 11 68157849 stop gained C/A snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs878853164
rs878853164
KMT5B
1.000 0.160 11 68157849 stop gained C/A snv 4.0E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs878853164
rs878853164
KMT5B
1.000 0.160 11 68157849 stop gained C/A snv 4.0E-06
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		0.700 0
dbSNP: rs878853164
rs878853164
KMT5B
1.000 0.160 11 68157849 stop gained C/A snv 4.0E-06
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs878853164
rs878853164
KMT5B
1.000 0.160 11 68157849 stop gained C/A snv 4.0E-06
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0