Source: CLINVAR

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: rs74799832
rs74799832
RET
0.685 0.250 10 43121968 missense variant T/C snp 4.0E-06
Multiple Endocrine Neoplasia Type 2b
0.900 1.000 19 1988 2016
dbSNP: rs74799832
rs74799832
RET
0.685 0.250 10 43121968 missense variant T/C snp 4.0E-06
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid
0.800 1.000 6 1996 2017
dbSNP: rs74799832
rs74799832
RET
0.685 0.250 10 43121968 missense variant T/C snp 4.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.710 1.000 10 1988 1998
dbSNP: rs74799832
rs74799832
RET
0.685 0.250 10 43121968 missense variant T/C snp 4.0E-06
Multiple Endocrine Neoplasia Type 2a
0.710 1.000 7 1996 2015
dbSNP: rs74799832
rs74799832
RET
0.685 0.250 10 43121968 missense variant T/C snp 4.0E-06
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.700 10 1998 2012
dbSNP: rs74799832
rs74799832
RET
0.685 0.250 10 43121968 missense variant T/C snp 4.0E-06
THYROID CARCINOMA, SPORADIC MEDULLARY
0.700 10 1988 1998
dbSNP: rs74799832
rs74799832
RET
0.685 0.250 10 43121968 missense variant T/C snp 4.0E-06
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 1 2015 2015
dbSNP: rs74799832
rs74799832
RET
0.685 0.250 10 43121968 missense variant T/C snp 4.0E-06
Multiple Endocrine Neoplasia, Type IV
0.700 1 1996 1996
dbSNP: rs74799832
rs74799832
RET
0.685 0.250 10 43121968 missense variant T/C snp 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs74799832
rs74799832
RET
0.685 0.250 10 43121968 missense variant T/C snp 4.0E-06
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border
0.700 1 2015 2015
dbSNP: rs74799832
rs74799832
RET
0.685 0.250 10 43121968 missense variant T/C snp 4.0E-06
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.700 1 1996 1996
dbSNP: rs74799832
rs74799832
RET
0.685 0.250 10 43121968 missense variant T/C snp 4.0E-06
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.700 1 2015 2015
dbSNP: rs74799832
rs74799832
RET
0.685 0.250 10 43121968 missense variant T/C snp 4.0E-06
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased
0.700 1 2015 2015
dbSNP: rs74799832
rs74799832
RET
0.685 0.250 10 43121968 missense variant T/C snp 4.0E-06
CUI: C0017567
Disease: Gingival Hypertrophy
Gingival Hypertrophy
0.700 1 2015 2015
dbSNP: rs74799832
rs74799832
RET
0.685 0.250 10 43121968 missense variant T/C snp 4.0E-06
CUI: C0009806
Disease: Constipation
Constipation
0.700 1 2015 2015
dbSNP: rs74799832
rs74799832
RET
0.685 0.250 10 43121968 missense variant T/C snp 4.0E-06
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.700 1 2015 2015