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: rs1060499894
rs1060499894
RET
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: rs1060500759
rs1060500759
RET
1.000 0.120 10 43120162 stop gained C/T snv
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		0.700 0
dbSNP: rs121913308
rs121913308
RET
0.827 0.120 10 43114492 missense variant A/C;G;T snv
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.700 0
dbSNP: rs1255575160
rs1255575160
RET
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
RET
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
RET
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
RET
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: rs149403911
rs149403911
RET
1.000 0.080 10 43102492 missense variant G/A;T snv 2.0E-05
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 0
dbSNP: rs1554818362
rs1554818362
RET
1.000 10 43109163 missense variant C/T snv
CUI: C0025160
Disease: Megacolon
Megacolon 		0.700 0
dbSNP: rs1564489315
rs1564489315
RET
1.000 0.080 10 43100496 stop gained G/A snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 0
dbSNP: rs1564490097
rs1564490097
RET
1.000 0.080 10 43102444 missense variant T/C snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 0
dbSNP: rs1564491460
rs1564491460
RET
1.000 0.080 10 43105186 missense variant G/A snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 0
dbSNP: rs1564494285
rs1564494285
RET
0.882 0.200 10 43111219 frameshift variant TG/- delins
CUI: C0267373
Disease: Intestinal hemorrhage NOS
Intestinal hemorrhage NOS 		0.700 0
dbSNP: rs1564494285
rs1564494285
RET
0.882 0.200 10 43111219 frameshift variant TG/- delins
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs1564494285
rs1564494285
RET
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: rs1564494285
rs1564494285
RET
0.882 0.200 10 43111219 frameshift variant TG/- delins
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.700 0
dbSNP: rs1564494285
rs1564494285
RET
0.882 0.200 10 43111219 frameshift variant TG/- delins
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs1564494285
rs1564494285
RET
0.882 0.200 10 43111219 frameshift variant TG/- delins
CUI: C0025160
Disease: Megacolon
Megacolon 		0.700 0
dbSNP: rs1564500612
rs1564500612
RET
1.000 0.080 10 43123732 frameshift variant -/T delins
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 0
dbSNP: rs1564501934
rs1564501934
RET
1.000 0.080 10 43126678 frameshift variant T/- del
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 0
dbSNP: rs17158558
rs17158558
RET
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
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
dbSNP: rs193922699
rs193922699
RET
1.000 0.080 10 43114478 splice acceptor variant A/G snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 0
dbSNP: rs200127630
rs200127630
RET
1.000 10 43119626 missense variant G/A snv 5.2E-05 2.1E-05
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs2435357
rs2435357
RET
0.790 0.240 10 43086608 intron variant T/C snv 0.79
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0