Gene: SPINK5 ×
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: rs2303067
rs2303067
SPINK5
5 0.851 0.160 5 148101392 missense variant A/G snv 0.52 0.44 0.070 1.000 7 2004 2012
dbSNP: rs2303063
rs2303063
SPINK5
4 0.882 0.160 5 148100464 missense variant G/A snv 0.52 0.44 0.020 1.000 2 2005 2012
dbSNP: rs2303064
rs2303064
SPINK5
2 0.925 0.120 5 148100517 missense variant G/A snv 0.20 0.25 0.020 1.000 2 2010 2012
dbSNP: rs1422985
rs1422985
SPINK5
2 0.925 0.120 5 148114596 intron variant A/C snv 3.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs17718511
rs17718511
SPINK5
2 0.925 0.120 5 148072009 intron variant A/G snv 3.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs17718737
rs17718737
SPINK5
2 0.925 0.120 5 148112898 synonymous variant T/C snv 4.5E-02 3.5E-02 0.010 1.000 1 2010 2010
dbSNP: rs17860502
rs17860502
SPINK5
2 0.925 0.120 5 148086438 missense variant G/A snv 4.6E-02 3.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs2303070
rs2303070
SPINK5
3 0.882 0.120 5 148120328 missense variant G/A;C;T snv 0.13 0.010 1.000 1 2012 2012
dbSNP: rs60978485
rs60978485
SPINK5
2 0.925 0.120 5 148091116 intron variant A/T snv 4.5E-02; 4.2E-06 3.2E-02 0.010 1.000 1 2010 2010