Gene: COL5A1 ×
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: rs80338764
rs80338764
COL5A1 ; LOC101448202
2 0.925 9 134824817 missense variant G/C snv 0.800 1.000 5 1997 2009
dbSNP: rs863223458
rs863223458
COL5A1 ; LOC101448202
1 1.000 9 134820143 missense variant G/A snv 0.700 1.000 5 1993 2013
dbSNP: rs886042173
rs886042173
COL5A1
1 1.000 9 134763738 splice donor variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs1060502248
rs1060502248
COL5A1
1 1.000 9 134780147 splice donor variant G/A snv 0.700 0
dbSNP: rs1060502258
rs1060502258
COL5A1
1 1.000 9 134767009 stop gained G/T snv 0.700 0
dbSNP: rs121912932
rs121912932
COL5A1 ; LOC101448202
2 0.925 0.160 9 134820135 missense variant G/A snv 0.700 0
dbSNP: rs121912933
rs121912933
COL5A1
1 1.000 9 134774901 stop gained C/T snv 0.700 0
dbSNP: rs1554792869
rs1554792869
COL5A1
1 1.000 9 134754279 stop gained C/T snv 0.700 0
dbSNP: rs1554805142
rs1554805142
COL5A1
1 1.000 9 134812665 stop gained C/T snv 0.700 0
dbSNP: rs1564453831
rs1564453831
COL5A1
1 1.000 9 134780099 splice region variant C/G snv 0.700 0
dbSNP: rs1564481053
rs1564481053
COL5A1
1 1.000 9 134818764 splice donor variant G/A snv 0.700 0
dbSNP: rs183495554
rs183495554
COL5A1 ; LOC101448202
1 1.000 9 134834960 intron variant T/A;C snv 1.4E-03 0.700 0
dbSNP: rs387906606
rs387906606
COL5A1
1 1.000 9 134805044 stop gained C/T snv 0.700 0
dbSNP: rs545973022
rs545973022
COL5A1
1 1.000 9 134814881 missense variant G/A snv 3.8E-05 3.2E-04 0.700 0
dbSNP: rs61735045
rs61735045
COL5A1
3 0.882 0.160 9 134750808 missense variant G/A snv 3.5E-02 3.1E-02 0.700 0
dbSNP: rs765079080
rs765079080
COL5A1
1 1.000 9 134795057 intron variant T/G snv 4.0E-06 0.700 0
dbSNP: rs769752636
rs769752636
COL5A1
1 1.000 9 134730386 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs786200922
rs786200922
COL5A1
1 1.000 9 134814039 splice region variant G/T snv 0.700 0
dbSNP: rs786205101
rs786205101
COL5A1
1 1.000 9 134727264 splice acceptor variant A/G snv 0.700 0
dbSNP: rs863223452
rs863223452
COL5A1
1 1.000 9 134815629 splice region variant G/A snv 0.700 0
dbSNP: rs863223478
rs863223478
COL5A1
1 1.000 9 134795115 stop gained C/T snv 0.700 0
dbSNP: rs886042045
rs886042045
COL5A1
1 1.000 9 134809213 stop gained C/T snv 0.700 0
dbSNP: rs764693725
rs764693725
COL5A1
1 1.000 9 134801983 frameshift variant C/-;CC delins 0.700 1.000 2 2012 2013
dbSNP: rs1057519596
rs1057519596
COL5A1
1 1.000 9 134767320 frameshift variant -/C delins 0.700 0
dbSNP: rs1060502242
rs1060502242
COL5A1
1 1.000 9 134691028 frameshift variant AG/- delins 0.700 0