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: rs1057518961
rs1057518961
DYNC1H1
0.925 0.040 14 102012450 missense variant C/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1057518961
rs1057518961
DYNC1H1
0.925 0.040 14 102012450 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1057518961
rs1057518961
DYNC1H1
0.925 0.040 14 102012450 missense variant C/T snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs1057518961
rs1057518961
DYNC1H1
0.925 0.040 14 102012450 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518961
rs1057518961
DYNC1H1
0.925 0.040 14 102012450 missense variant C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0