rs1554603293, CHD7

N. diseases: 17
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Absence of septum pellucidum
CUI: C0431371
Disease: Absence of septum pellucidum
2 0.752 0.320 8 60849154 missense variant G/A snv 0.700 0
CHARGE Syndrome
CUI: C0265354
Disease: CHARGE Syndrome
205 0.752 0.320 8 60849154 missense variant G/A snv 0.700 0
Choanal Atresia
CUI: C0008297
Disease: Choanal Atresia
7 0.752 0.320 8 60849154 missense variant G/A snv 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.752 0.320 8 60849154 missense variant G/A snv 0.700 0
Dilated ventricles (finding)
CUI: C3278923
Disease: Dilated ventricles (finding)
32 0.752 0.320 8 60849154 missense variant G/A snv 0.700 0
Generalized hirsutism
CUI: C1849211
Disease: Generalized hirsutism
3 0.752 0.320 8 60849154 missense variant G/A snv 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.752 0.320 8 60849154 missense variant G/A snv 0.700 0
Hypoplasia of scrotum
CUI: C0431659
Disease: Hypoplasia of scrotum
3 0.752 0.320 8 60849154 missense variant G/A snv 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.752 0.320 8 60849154 missense variant G/A snv 0.700 0
Lobar Holoprosencephaly
CUI: C0431362
Disease: Lobar Holoprosencephaly
2 0.752 0.320 8 60849154 missense variant G/A snv 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.752 0.320 8 60849154 missense variant G/A snv 0.700 0
Orbital separation diminished
CUI: C0424711
Disease: Orbital separation diminished
11 0.752 0.320 8 60849154 missense variant G/A snv 0.700 0
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
56 0.752 0.320 8 60849154 missense variant G/A snv 0.700 0
Posteriorly rotated ear
CUI: C0431478
Disease: Posteriorly rotated ear
23 0.752 0.320 8 60849154 missense variant G/A snv 0.700 0
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.752 0.320 8 60849154 missense variant G/A snv 0.700 0
Short palpebral fissure
CUI: C0423112
Disease: Short palpebral fissure
16 0.752 0.320 8 60849154 missense variant G/A snv 0.700 0
Transposition of Great Vessels
CUI: C0040761
Disease: Transposition of Great Vessels
18 0.752 0.320 8 60849154 missense variant G/A snv 0.700 0