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: rs398123425
rs398123425
ATRX
0.776 0.320 X 77688876 missense variant T/C snv
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.700 0
dbSNP: rs398123425
rs398123425
ATRX
0.776 0.320 X 77688876 missense variant T/C snv
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		0.700 0
dbSNP: rs398123425
rs398123425
ATRX
0.776 0.320 X 77688876 missense variant T/C snv
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.700 0
dbSNP: rs398123425
rs398123425
ATRX
0.776 0.320 X 77688876 missense variant T/C snv
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		0.700 0
dbSNP: rs398123425
rs398123425
ATRX
0.776 0.320 X 77688876 missense variant T/C snv
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.700 0
dbSNP: rs398123425
rs398123425
ATRX
0.776 0.320 X 77688876 missense variant T/C snv
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.700 0
dbSNP: rs398123425
rs398123425
ATRX
0.776 0.320 X 77688876 missense variant T/C snv
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		0.700 0
dbSNP: rs398123425
rs398123425
ATRX
0.776 0.320 X 77688876 missense variant T/C snv
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.700 0
dbSNP: rs398123425
rs398123425
ATRX
0.776 0.320 X 77688876 missense variant T/C snv
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		0.700 0