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: rs886041154
rs886041154
CASR
3 0.882 0.160 3 122254353 missense variant C/T snv 0.700 1.000 9 1995 2014
dbSNP: rs28936684
rs28936684
CASR
5 0.827 0.160 3 122261715 missense variant G/A;T snv 4.0E-06 0.700 1.000 8 1992 2016
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: 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: 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: 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: rs1057520791
rs1057520791
CASR
3 0.882 0.160 3 122284611 missense variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs1060502855
rs1060502855
CASR
3 0.882 0.160 3 122261567 missense variant A/G snv 0.700 0
dbSNP: rs121909260
rs121909260
CASR
3 0.882 0.160 3 122257275 missense variant A/C;G snv 0.700 0
dbSNP: rs121909264
rs121909264
CASR
5 0.851 0.160 3 122257323 missense variant G/A snv 0.700 0
dbSNP: rs1553731681
rs1553731681
CASR
1 1.000 0.120 3 122261678 missense variant G/C snv 0.700 0
dbSNP: rs1553766768
rs1553766768
CASR
2 0.925 0.160 3 122261768 stop gained C/T snv 0.700 0
dbSNP: rs1553768972
rs1553768972
CASR
2 0.925 0.160 3 122283924 frameshift variant C/- delins 0.700 0
dbSNP: rs193922419
rs193922419
CASR
1 1.000 0.120 3 122262093 missense variant A/C snv 0.700 0
dbSNP: rs193922421
rs193922421
CASR
1 1.000 0.120 3 122262279 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs193922422
rs193922422
CASR
1 1.000 0.120 3 122275945 frameshift variant GTTT/- delins 0.700 0
dbSNP: rs193922423
rs193922423
CASR
2 0.925 0.120 3 122275959 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs193922424
rs193922424
CASR
1 1.000 0.120 3 122254354 frameshift variant G/- delins 0.700 0
dbSNP: rs193922425
rs193922425
CASR
1 1.000 0.120 3 122282180 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs193922426
rs193922426
CASR
1 1.000 0.120 3 122282189 missense variant G/C snv 0.700 0
dbSNP: rs193922427
rs193922427
CASR
1 1.000 0.120 3 122282189 missense variant GC/CT mnv 0.700 0
dbSNP: rs193922429
rs193922429
CASR
1 1.000 0.120 3 122283837 frameshift variant C/- delins 0.700 0
dbSNP: rs193922431
rs193922431
CASR
1 1.000 0.120 3 122283968 missense variant C/A snv 0.700 0
dbSNP: rs193922432
rs193922432
CASR
1 1.000 0.120 3 122257101 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs193922433
rs193922433
CASR
1 1.000 0.120 3 122284197 missense variant C/A;T snv 0.700 0