Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1042636
rs1042636
CASR
23 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
21 0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26 0.010 1.000 1 2015 2015
dbSNP: rs77939446
rs77939446
RET
15 0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 1 1999 1999
dbSNP: rs76262710
rs76262710
RET
17 0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.700 1.000 1 1999 1999
dbSNP: rs79781594
rs79781594
RET
16 0.732 0.160 10 43113649 missense variant G/A;C;T snv 0.700 1.000 1 1999 1999
dbSNP: rs77503355
rs77503355
RET
8 0.776 0.160 10 43113655 missense variant G/A;C;T snv 0.700 1.000 1 1997 1997
dbSNP: rs377767404
rs377767404
RET
11 0.742 0.160 10 43114488 missense variant T/C snv 0.700 1.000 1 1999 1999
dbSNP: rs75076352
rs75076352
RET
24 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.700 1.000 1 1995 1995
dbSNP: rs75996173
rs75996173
RET
21 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 1995 1995
dbSNP: rs77709286
rs77709286
RET
12 0.752 0.160 10 43114502 missense variant C/G snv 4.0E-06 0.700 1.000 1 1995 1995
dbSNP: rs78014899
rs78014899
RET
12 0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06 0.700 1.000 1 1997 1997
dbSNP: rs77724903
rs77724903
RET
23 0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03 0.700 1.000 1 2005 2005
dbSNP: rs79658334
rs79658334
RET
29 0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06 0.700 1.000 1 1997 1997
dbSNP: rs377767429
rs377767429
RET
7 0.790 0.120 10 43120120 missense variant GC/TT mnv 0.700 1.000 1 1999 1999
dbSNP: rs75234356
rs75234356
RET
14 0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 0.700 1.000 1 2005 2005
dbSNP: rs74799832
rs74799832
RET
33 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.700 1.000 1 1995 1995
dbSNP: rs1565634591
rs1565634591
MEN1 ; MAP4K2
1 1.000 0.120 11 64804202 splice acceptor variant ACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGG/- delins 0.700 1.000 3 2000 2006
dbSNP: rs864622617
rs864622617
MEN1 ; MAP4K2
1 1.000 0.120 11 64804428 frameshift variant G/- del 0.700 0
dbSNP: rs1565635941
rs1565635941
MEN1 ; MAP4K2
1 1.000 0.120 11 64804492 frameshift variant -/C delins 0.700 1.000 3 1999 2006
dbSNP: rs863224527
rs863224527
MEN1 ; MAP4K2
2 1.000 0.120 11 64804503 missense variant C/T snv 0.800 0
dbSNP: rs794728631
rs794728631
MEN1 ; MAP4K2
2 1.000 0.120 11 64804507 stop gained G/A snv 0.700 1.000 6 1999 2007
dbSNP: rs1387157979
rs1387157979
MEN1 ; MAP4K2
1 1.000 0.120 11 64804537 missense variant G/A snv 4.0E-06 0.700 1.000 20 1997 2005
dbSNP: rs745404679
rs745404679
MEN1 ; MAP4K2
1 1.000 0.120 11 64804549 missense variant G/A;T snv 1.1E-04; 4.0E-06 0.700 1.000 8 2001 2017
dbSNP: rs104894261
rs104894261
MEN1 ; MAP4K2
2 1.000 0.120 11 64804588 stop gained G/A snv 0.700 1.000 6 1997 2014
dbSNP: rs767319284
rs767319284
MEN1 ; MAP4K2
2 1.000 0.120 11 64804621 frameshift variant G/-;GG delins 0.700 1.000 15 1997 2015