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: rs587777596
rs587777596
NPR2
1.000 9 35805586 missense variant C/T snv 4.0E-06
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.800 1.000 4 2012 2014
dbSNP: rs587777597
rs587777597
NPR2
1.000 9 35801668 missense variant G/A;C snv 4.0E-06
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.800 1.000 4 2012 2014
dbSNP: rs28931581
rs28931581
NPR2
1.000 0.040 9 35792502 missense variant C/A snv
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		0.800 1.000 3 2004 2016
dbSNP: rs28931582
rs28931582
NPR2
1.000 0.040 9 35792751 missense variant T/G snv
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		0.800 1.000 3 2004 2016
dbSNP: rs139036657
rs139036657
NPR2
1.000 9 35794018 missense variant G/A;C snv 3.6E-05
CUI: C4225399
Disease: SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 		0.800 1.000 2 2013 2014
dbSNP: rs766256429
rs766256429
NPR2
1.000 9 35806474 missense variant C/G;T snv 4.0E-06; 2.0E-05
CUI: C4225399
Disease: SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 		0.800 1.000 2 2013 2014
dbSNP: rs796065355
rs796065355
NPR2
1.000 9 35792634 missense variant T/A;C snv
CUI: C4225399
Disease: SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 		0.800 1.000 2 2013 2014
dbSNP: rs796065356
rs796065356
NPR2
1.000 9 35800739 missense variant C/A;G snv 4.0E-06
CUI: C4225399
Disease: SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 		0.800 1.000 2 2013 2014
dbSNP: rs28929479
rs28929479
NPR2
1.000 0.040 9 35792936 missense variant T/A snv
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		0.800 0
dbSNP: rs758478717
rs758478717
NPR2
1.000 9 35792736 missense variant C/T snv 4.0E-06
CUI: C4225399
Disease: SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 		0.800 0
dbSNP: rs1303913631
rs1303913631
NPR2
1.000 0.040 9 35806187 missense variant C/T snv 8.0E-06
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		0.700 1.000 3 2004 2016
dbSNP: rs1313765432
rs1313765432
NPR2
1.000 0.040 9 35799634 missense variant C/T snv 4.0E-06
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		0.700 1.000 3 2004 2016
dbSNP: rs1554672061
rs1554672061
NPR2
1.000 9 35793897 splice acceptor variant G/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 3 2004 2015
dbSNP: rs1554672893
rs1554672893
NPR2
0.925 0.040 9 35799732 splice donor variant G/C snv
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		0.700 1.000 2 2004 2013
dbSNP: rs1554672893
rs1554672893
NPR2
0.925 0.040 9 35799732 splice donor variant G/C snv
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.700 1.000 2 2004 2013
dbSNP: rs114147262
rs114147262
NPR2
9 35806220 missense variant C/T snv 2.9E-04 1.3E-04
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1563993649
rs1563993649
NPR2 ; SPAG8
0.925 0.040 9 35808507 splice acceptor variant A/T snv
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		0.700 1.000 1 2004 2004
dbSNP: rs1563993649
rs1563993649
NPR2 ; SPAG8
0.925 0.040 9 35808507 splice acceptor variant A/T snv
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.700 1.000 1 2004 2004
dbSNP: rs1057518817
rs1057518817
NPR2
1.000 0.080 9 35805944 frameshift variant GTGGTCCTTTC/- del
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 0
dbSNP: rs1057518817
rs1057518817
NPR2
1.000 0.080 9 35805944 frameshift variant GTGGTCCTTTC/- del
CUI: C0239399
Disease: Short extremities
Short extremities 		0.700 0
dbSNP: rs1057518817
rs1057518817
NPR2
1.000 0.080 9 35805944 frameshift variant GTGGTCCTTTC/- del
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1057518817
rs1057518817
NPR2
1.000 0.080 9 35805944 frameshift variant GTGGTCCTTTC/- del
CUI: C0426874
Disease: Trident hand
Trident hand 		0.700 0
dbSNP: rs1057519324
rs1057519324
NPR2
0.925 0.080 9 35801153 stop gained C/T snv 7.0E-06
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.700 0
dbSNP: rs1057519324
rs1057519324
NPR2
0.925 0.080 9 35801153 stop gained C/T snv 7.0E-06
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0.700 0
dbSNP: rs1057519324
rs1057519324
NPR2
0.925 0.080 9 35801153 stop gained C/T snv 7.0E-06
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		0.700 0