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: rs768663992
rs768663992
CLUAP1
0.882 0.160 16 3508407 missense variant T/G snv 1.3E-05 4.2E-05
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.700 1.000 1 2017 2017
dbSNP: rs768663992
rs768663992
CLUAP1
0.882 0.160 16 3508407 missense variant T/G snv 1.3E-05 4.2E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 1 2017 2017
dbSNP: rs768663992
rs768663992
CLUAP1
0.882 0.160 16 3508407 missense variant T/G snv 1.3E-05 4.2E-05
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.700 1.000 1 2017 2017
dbSNP: rs768663992
rs768663992
CLUAP1
0.882 0.160 16 3508407 missense variant T/G snv 1.3E-05 4.2E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs768663992
rs768663992
CLUAP1
0.882 0.160 16 3508407 missense variant T/G snv 1.3E-05 4.2E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2017 2017
dbSNP: rs769705065
rs769705065
CLUAP1
0.882 0.160 16 3520011 stop gained C/T snv 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 1 2017 2017
dbSNP: rs769705065
rs769705065
CLUAP1
0.882 0.160 16 3520011 stop gained C/T snv 7.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2017 2017
dbSNP: rs769705065
rs769705065
CLUAP1
0.882 0.160 16 3520011 stop gained C/T snv 7.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs769705065
rs769705065
CLUAP1
0.882 0.160 16 3520011 stop gained C/T snv 7.0E-06
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.700 1.000 1 2017 2017
dbSNP: rs769705065
rs769705065
CLUAP1
0.882 0.160 16 3520011 stop gained C/T snv 7.0E-06
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.700 1.000 1 2017 2017
dbSNP: rs751218423
rs751218423
CLUAP1
1.000 0.040 16 3523261 missense variant C/T snv 8.0E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0