Source: UNIPROT

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: rs76397662
rs76397662
RET
0.851 0.200 10 43102345 missense variant G/A snv 7.9E-04 2.9E-04
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		0.700 1.000 4 1998 2010
dbSNP: rs552057730
rs552057730
RET
1.000 0.120 10 43111238 missense variant C/A;T snv 8.0E-06; 1.6E-05
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		0.700 1.000 3 1998 2003
dbSNP: rs79853121
rs79853121
RET
1.000 0.120 10 43126651 missense variant C/A;T snv 3.6E-05
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		0.700 1.000 3 1998 2003
dbSNP: rs36119840
rs36119840
GDNF ; GDNF-AS1
0.807 0.280 5 37816010 missense variant G/A snv 2.3E-03 2.7E-03
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		0.700 1.000 2 1998 2010
dbSNP: rs8192466
rs8192466
BDNF ; BDNF-AS
1.000 0.120 11 27658560 missense variant G/A;T snv 1.3E-03; 1.6E-04
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		0.700 1.000 2 2002 2010
dbSNP: rs192489011
rs192489011
RET
1.000 0.120 10 43100585 missense variant G/A;T snv 1.1E-03; 4.0E-06
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		0.700 0