Gene: PCSK7 ×
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: rs508487
rs508487
TAGLN ; PCSK7
4 11 117204850 3 prime UTR variant C/T snv 5.2E-02 0.700 1.000 4 2011 2019
dbSNP: rs142953140
rs142953140
PCSK7
2 11 117218489 missense variant C/T snv 1.9E-04 6.8E-04 0.700 1.000 1 2014 2014
dbSNP: rs17120434
rs17120434
TAGLN ; PCSK7
3 11 117204969 3 prime UTR variant A/G;T snv 5.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs2306473
rs2306473
PCSK7
1 11 117227236 synonymous variant C/T snv 0.19 0.22 0.700 1.000 1 2012 2012
dbSNP: rs236911
rs236911
PCSK7
1 11 117214554 non coding transcript exon variant A/C snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs641620
rs641620
TAGLN ; PCSK7 ; LOC100652768
1 11 117203513 intron variant T/C snv 0.27 0.27 0.700 1.000 1 2012 2012