Source: CURATED

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: rs104893891
rs104893891
GDNF ; GDNF-AS1
1.000 5 37815827 missense variant T/A;C snv
CUI: C3150974
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 		0.800 1.000 4 1996 2000
dbSNP: rs121918536
rs121918536
GDNF ; GDNF-AS1
1.000 5 37815654 missense variant G/C snv 9.9E-05 1.0E-04
CUI: C3150974
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 		0.800 1.000 4 1996 2000
dbSNP: rs36119840
rs36119840
GDNF ; GDNF-AS1
0.807 0.280 5 37816010 missense variant G/A snv 2.3E-03 2.7E-03
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.710 1.000 1 1997 1997
dbSNP: rs36119840
rs36119840
GDNF ; GDNF-AS1
0.807 0.280 5 37816010 missense variant G/A snv 2.3E-03 2.7E-03
CUI: C3150974
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 		0.700 1.000 4 1996 2000
dbSNP: rs777451569
rs777451569
GDNF ; GDNF-AS1
1.000 5 37834736 missense variant G/A snv 3.3E-05 6.3E-05
CUI: C3150974
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 		0.700 1.000 4 1996 2000
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: rs11747340
rs11747340
GDNF ; GDNF-AS1
5 37840346 intron variant G/A snv 6.0E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2019 2019