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: rs1553769059
rs1553769059
CASR
2 0.925 0.120 3 122284197 frameshift variant -/G delins 0.700 1.000 1 1997 1997
dbSNP: rs794729230
rs794729230
CASR
2 0.925 0.120 3 122284436 missense variant A/C snv 0.700 1.000 3 2000 2014
dbSNP: rs104893702
rs104893702
CASR
2 0.925 0.120 3 122254330 missense variant A/C snv 0.700 0
dbSNP: rs201851934
rs201851934
CASR
2 0.925 0.120 3 122261549 missense variant A/C;G snv 4.0E-06 0.700 1.000 4 2009 2016
dbSNP: rs121909260
rs121909260
CASR
3 0.882 0.160 3 122257275 missense variant A/C;G snv 0.700 0
dbSNP: rs1060502855
rs1060502855
CASR
3 0.882 0.160 3 122261567 missense variant A/G snv 0.700 0
dbSNP: rs1559956683
rs1559956683
CASR
2 0.925 0.120 3 122257288 inframe deletion AGAGCACATTCCCTC/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1553768972
rs1553768972
CASR
2 0.925 0.160 3 122283924 frameshift variant C/- delins 0.700 0
dbSNP: rs104893695
rs104893695
CASR
2 0.925 0.120 3 122257249 missense variant C/A snv 0.700 0
dbSNP: rs104893706
rs104893706
CASR
4 0.851 0.240 3 122284482 missense variant C/A snv 0.700 0
dbSNP: rs1085307984
rs1085307984
CASR
2 0.925 0.160 3 122261714 stop gained C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 3 2011 2016
dbSNP: rs1482119762
rs1482119762
CASR
4 0.851 0.200 3 122261693 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 4 1991 2007
dbSNP: rs201633414
rs201633414
CASR
2 0.925 0.160 3 122254262 stop gained C/A;T snv 8.0E-06 0.700 1.000 2 2006 2011
dbSNP: rs397514728
rs397514728
CASR
4 0.851 0.160 3 122261697 missense variant C/A;T snv 0.700 0
dbSNP: rs104893703
rs104893703
CASR
2 0.925 0.120 3 122283800 missense variant C/G snv 0.700 0
dbSNP: rs886041154
rs886041154
CASR
3 0.882 0.160 3 122254353 missense variant C/T snv 0.700 1.000 9 1995 2014
dbSNP: rs121909258
rs121909258
CASR
3 0.882 0.160 3 122284337 missense variant C/T snv 7.0E-06 0.700 1.000 6 1993 2011
dbSNP: rs767363250
rs767363250
CASR
5 0.827 0.280 3 122283992 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 6 1995 2012
dbSNP: rs121909263
rs121909263
CASR
2 0.925 0.120 3 122257308 missense variant C/T snv 0.700 1.000 2 1992 1995
dbSNP: rs104893694
rs104893694
CASR
2 0.925 0.120 3 122257347 missense variant C/T snv 0.710 1.000 1 1996 1996
dbSNP: rs886041637
rs886041637
CASR
2 0.925 0.120 3 122282134 stop gained C/T snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs104893710
rs104893710
CASR
5 0.851 0.200 3 122284413 missense variant C/T snv 0.700 0
dbSNP: rs1553766768
rs1553766768
CASR
2 0.925 0.160 3 122261768 stop gained C/T snv 0.700 0
dbSNP: rs1060502847
rs1060502847
CASR
2 0.925 0.120 3 122254353 missense variant CG/TT mnv 0.700 1.000 9 1995 2014
dbSNP: rs1553769169
rs1553769169
CASR
1 1.000 0.120 3 122284631 inframe deletion CTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGT/- delins 0.700 0