Gene: CHRNE ×
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: rs121909514
rs121909514
CHRNE ; C17orf107
1 1.000 0.080 17 4901932 missense variant C/A snv 7.0E-06 0.800 1.000 1 1997 1997
dbSNP: rs121909515
rs121909515
CHRNE ; C17orf107
1 1.000 0.080 17 4899509 missense variant G/A;T snv 4.3E-06; 6.1E-05 0.800 1.000 1 1997 1997
dbSNP: rs763258280
rs763258280
CHRNE ; C17orf107
2 0.925 0.080 17 4898891 splice acceptor variant C/- delins 1.3E-04 7.0E-06 0.700 1.000 2 1998 1999
dbSNP: rs759226183
rs759226183
CHRNE ; C17orf107
2 0.925 0.080 17 4900998 missense variant G/A;C snv 1.6E-05; 4.0E-06 0.700 1.000 1 1997 1997
dbSNP: rs786204773
rs786204773
CHRNE ; C17orf107
1 1.000 0.080 17 4899386 splice acceptor variant T/A snv 7.0E-06 0.700 1.000 1 2005 2005
dbSNP: rs121909513
rs121909513
CHRNE ; C17orf107
1 1.000 0.080 17 4902311 stop gained G/A;C snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs121909516
rs121909516
CHRNE ; C17orf107
2 0.925 0.080 17 4901944 missense variant G/A;C snv 2.7E-04; 3.6E-05 0.700 0
dbSNP: rs1430654625
rs1430654625
CHRNE ; C17orf107
1 1.000 0.080 17 4899000 splice donor variant C/T snv 0.700 0
dbSNP: rs144169073
rs144169073
CHRNE ; C17orf107
1 1.000 0.080 17 4902707 missense variant A/G snv 6.4E-04 6.4E-04 0.700 0
dbSNP: rs1567636493
rs1567636493
CHRNE ; C17orf107
1 1.000 0.080 17 4899318 frameshift variant AGGCGGCCCGGGGGGCCTC/- del 0.700 0
dbSNP: rs748144899
rs748144899
CHRNE ; C17orf107
1 1.000 0.080 17 4903159 intron variant G/A snv 7.0E-06 0.700 0
dbSNP: rs753828284
rs753828284
CHRNE ; C17orf107
2 0.925 0.080 17 4901172 frameshift variant TGGCCCA/- delins 3.7E-05 7.7E-05 0.700 0
dbSNP: rs773526895
rs773526895
CHRNE ; C17orf107
2 0.925 0.080 17 4898864 frameshift variant -/C delins 1.5E-04 6.3E-05 0.700 0
dbSNP: rs879253722
rs879253722
CHRNE ; C17orf107
1 1.000 0.080 17 4902216 splice donor variant C/T snv 0.700 0
dbSNP: rs879253723
rs879253723
CHRNE ; C17orf107
1 1.000 0.080 17 4899470 frameshift variant G/- delins 0.700 0
dbSNP: rs879255562
rs879255562
CHRNE ; C17orf107
1 1.000 0.080 17 4899529 frameshift variant A/- del 2.8E-05 0.700 0
dbSNP: rs879255563
rs879255563
CHRNE ; C17orf107
1 1.000 0.080 17 4901641 3 prime UTR variant C/T snv 0.700 0
dbSNP: rs886037628
rs886037628
CHRNE ; C17orf107
1 1.000 0.080 17 4899255 frameshift variant -/A ins 4.2E-06 0.700 0