RET, ret proto-oncogene, 5979

N. diseases: 607; N. variants: 162
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554818362
rs1554818362 		1.000 10 43109163 missense variant C/T snv
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.800 1.000 15 1994 2011
dbSNP: rs537874538
rs537874538 		1.000 10 43111381 missense variant G/A snv 2.7E-04 5.6E-05
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.800 1.000 15 1994 2011
dbSNP: rs76087194
rs76087194 		1.000 10 43120163 missense variant G/A snv
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.800 1.000 15 1994 2011
dbSNP: rs76262710
rs76262710 		0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.800 1.000 15 1994 2011
dbSNP: rs76534745
rs76534745 		1.000 10 43123783 missense variant A/G snv
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.800 1.000 15 1994 2011
dbSNP: rs77596424
rs77596424 		1.000 10 43100576 missense variant C/T snv
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.800 1.000 15 1994 2011
dbSNP: rs78098482
rs78098482 		1.000 10 43109146 missense variant C/A snv
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.800 1.000 15 1994 2011
dbSNP: rs1483605155
rs1483605155 		1.000 10 43113579 missense variant G/A;C snv 4.1E-06
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 1.000 15 1994 2011
dbSNP: rs183729115
rs183729115 		1.000 10 43109156 missense variant G/A snv
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 1.000 15 1994 2011
dbSNP: rs536486113
rs536486113 		1.000 10 43126717 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 1.000 15 1994 2011
dbSNP: rs587778656
rs587778656 		1.000 10 43118436 missense variant A/C;G snv 2.0E-05; 4.0E-06
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 1.000 15 1994 2011
dbSNP: rs587778659
rs587778659 		1.000 10 43126720 missense variant A/G snv 1.2E-05 2.8E-05
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 1.000 15 1994 2011
dbSNP: rs762472027
rs762472027 		1.000 10 43109046 missense variant G/A snv 8.0E-06
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 1.000 15 1994 2011
dbSNP: rs76397662
rs76397662 		0.851 0.200 10 43102345 missense variant G/A snv 7.9E-04 2.9E-04
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 1.000 15 1994 2011
dbSNP: rs774829203
rs774829203 		1.000 10 43106524 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 1.000 15 1994 2011
dbSNP: rs77702891
rs77702891 		0.925 0.080 10 43106446 missense variant G/A;T snv 1.2E-04
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 1.000 15 1994 2011
dbSNP: rs77724903
rs77724903 		0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 1.000 15 1994 2011
dbSNP: rs79781594
rs79781594 		0.732 0.160 10 43113649 missense variant G/A;C;T snv
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 1.000 15 1994 2011
dbSNP: rs1060499894
rs1060499894 		1.000 10 43106455 missense variant G/C;T snv
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1255575160
rs1255575160 		1.000 10 43113672 missense variant C/A snv 4.0E-06
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1318733775
rs1318733775 		1.000 10 43119576 missense variant G/A snv 4.1E-06 7.0E-06
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1451004715
rs1451004715 		1.000 10 43120091 missense variant G/A snv
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1477699803
rs1477699803 		1.000 10 43100662 missense variant G/A snv
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1564494285
rs1564494285 		0.882 0.200 10 43111219 frameshift variant TG/- delins
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs17158558
rs17158558 		0.925 0.080 10 43124887 missense variant C/T snv 1.9E-02 1.6E-02
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0