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: rs869312693
rs869312693
DYNC1H1
0.925 0.080 14 102034135 missense variant C/T snv
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0.700 0
dbSNP: rs869312693
rs869312693
DYNC1H1
0.925 0.080 14 102034135 missense variant C/T snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 0
dbSNP: rs869312693
rs869312693
DYNC1H1
0.925 0.080 14 102034135 missense variant C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0