Source: ALL

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: rs137853027
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		0.800 1.000 4 2009 2013
dbSNP: rs137853027
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.700 1.000 4 2009 2018
dbSNP: rs137853027
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		0.700 0
dbSNP: rs137853027
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		0.700 0
dbSNP: rs137853027
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs137853027
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04
CUI: C4024597
Disease: Aplasia/Hypoplasia involving the pelvis
Aplasia/Hypoplasia involving the pelvis 		0.700 0
dbSNP: rs137853027
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04
CUI: C4021399
Disease: Finger symphalangism
Finger symphalangism 		0.700 0
dbSNP: rs137853027
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		0.700 0
dbSNP: rs137853027
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		0.700 0
dbSNP: rs137853027
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04
CUI: C1859461
Disease: Femoral bowing
Femoral bowing 		0.700 0
dbSNP: rs137853027
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.700 0
dbSNP: rs137853027
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04
CUI: C0426817
Disease: Short ribs
Short ribs 		0.700 0
dbSNP: rs137853027
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04
CUI: C1854912
Disease: Short long bone
Short long bone 		0.700 0
dbSNP: rs137853027
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		0.700 0
dbSNP: rs137853027
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04
CUI: C0239138
Disease: Hip joint varus deformity - observation
Hip joint varus deformity - observation 		0.700 0