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: rs1567010427
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.700 0
dbSNP: rs1567010427
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1567010427
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv
CUI: C4022667
Disease: Small toe
Small toe 		0.700 0
dbSNP: rs1567010427
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.700 0
dbSNP: rs1567010427
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs1567010427
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		0.700 0
dbSNP: rs1567010427
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		0.700 0
dbSNP: rs1567010427
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 0
dbSNP: rs1567010427
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv
CUI: C0151526
Disease: Premature Birth
Premature Birth 		0.700 0
dbSNP: rs1567010427
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1567010427
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0