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: rs587777274
rs587777274
NR2F1 ; NR2F1-AS1
1.000 0.160 5 93585367 missense variant G/C snv
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		0.800 1.000 0 2014 2014
dbSNP: rs587777275
rs587777275
NR2F1 ; NR2F1-AS1
1.000 0.160 5 93585362 missense variant C/A;T snv
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		0.800 1.000 0 2014 2014
dbSNP: rs587777276
rs587777276
NR2F1
1.000 0.160 5 93588208 missense variant T/C snv
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		0.800 1.000 0 2014 2014
dbSNP: rs587777277
rs587777277
NR2F1 ; NR2F1-AS1
1.000 0.160 5 93585358 missense variant G/A snv
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		0.800 1.000 0 2014 2014
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
1.000 0.160 5 93585448 missense variant G/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 12 1999 2017
dbSNP: rs863224903
rs863224903
NR2F1 ; NR2F1-AS1
1.000 0.160 5 93585405 missense variant T/C snv
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		0.700 1.000 1 2016 2016
dbSNP: rs1022192010
rs1022192010
NR2F1 ; NR2F1-AS1
1.000 0.160 5 93585426 missense variant C/T snv
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		0.700 0
dbSNP: rs1057519434
rs1057519434
NR2F1 ; NR2F1-AS1
1.000 0.160 5 93585436 missense variant G/A snv
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		0.700 0
dbSNP: rs1287146448
rs1287146448
NR2F1 ; NR2F1-AS1
1.000 0.160 5 93585312 missense variant C/G;T snv
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		0.700 0
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
1.000 0.160 5 93585448 missense variant G/A;T snv
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		0.700 0
dbSNP: rs1554074850
rs1554074850
NR2F1
1.000 0.160 5 93588182 stop gained GC/CT mnv
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		0.700 0
dbSNP: rs1554075105
rs1554075105
NR2F1
1.000 0.160 5 93593685 missense variant T/C snv
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		0.700 0