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: rs77316810
rs77316810
RET
0.776 0.200 10 43113654 missense variant T/A;C;G snv
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		0.720 1.000 40 1993 2017
dbSNP: rs77316810
rs77316810
RET
0.776 0.200 10 43113654 missense variant T/A;C;G snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.760 1.000 33 1994 2017
dbSNP: rs79781594
rs79781594
RET
0.732 0.160 10 43113649 missense variant G/A;C;T snv
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.830 1.000 31 1993 2018
dbSNP: rs79781594
rs79781594
RET
0.732 0.160 10 43113649 missense variant G/A;C;T snv
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.820 1.000 30 1993 2017
dbSNP: rs79781594
rs79781594
RET
0.732 0.160 10 43113649 missense variant G/A;C;T snv
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		0.710 1.000 26 1993 2016
dbSNP: rs80069458
rs80069458
RET
0.882 0.120 10 43113629 missense variant C/G;T snv
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.800 1.000 21 1993 2017
dbSNP: rs80069458
rs80069458
RET
0.882 0.120 10 43113629 missense variant C/G;T snv
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.700 1.000 20 1993 2001
dbSNP: rs77503355
rs77503355
RET
0.776 0.160 10 43113655 missense variant G/A;C;T snv
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.810 1.000 19 1994 2017
dbSNP: rs77503355
rs77503355
RET
0.776 0.160 10 43113655 missense variant G/A;C;T snv
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		0.710 1.000 19 1993 2011
dbSNP: rs1554818362
rs1554818362
RET
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: rs183729115
rs183729115
RET
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: rs76087194
rs76087194
RET
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: rs76534745
rs76534745
RET
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: rs77558292
rs77558292
RET
0.776 0.160 10 43113621 missense variant T/A;C;G snv
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.810 1.000 15 1996 2017
dbSNP: rs77596424
rs77596424
RET
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
RET
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: rs79781594
rs79781594
RET
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: rs2435357
rs2435357
RET
0.790 0.240 10 43086608 intron variant T/C snv 0.79
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.900 0.923 13 2011 2019
dbSNP: rs377767397
rs377767397
RET
0.790 0.280 10 43113628 missense variant G/A;C;T snv
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		0.700 1.000 13 1994 2018
dbSNP: rs1554818540
rs1554818540
RET
10 43111366 frameshift variant -/G delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 12 1994 2012
dbSNP: rs77316810
rs77316810
RET
0.776 0.200 10 43113654 missense variant T/A;C;G snv
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.830 1.000 12 1994 2017
dbSNP: rs79781594
rs79781594
RET
0.732 0.160 10 43113649 missense variant G/A;C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 12 1996 2015
dbSNP: rs377767405
rs377767405
RET
0.827 0.120 10 43114489 missense variant G/A;C;T snv
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		0.700 1.000 11 1995 2015
dbSNP: rs377767429
rs377767429
RET
0.790 0.120 10 43120120 missense variant GC/TT mnv
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		0.810 1.000 11 1994 2017
dbSNP: rs377767442
rs377767442
RET
0.827 0.160 10 43121967 missense variant A/G snv
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		0.700 1.000 11 1994 2019