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: rs111033544
rs111033544
COL10A1 ; NT5DC1
1 1.000 0.080 6 116120324 missense variant A/C snv 0.800 1.000 8 1994 2005
dbSNP: rs111033545
rs111033545
COL10A1 ; NT5DC1
1 1.000 0.080 6 116120275 missense variant A/G snv 0.800 1.000 8 1994 2005
dbSNP: rs111033546
rs111033546
COL10A1 ; NT5DC1
1 1.000 0.080 6 116120345 missense variant A/G snv 0.800 1.000 8 1994 2005
dbSNP: rs111033549
rs111033549
COL10A1 ; NT5DC1
1 1.000 0.080 6 116120165 missense variant A/G snv 0.800 1.000 8 1994 2005
dbSNP: rs111033550
rs111033550
COL10A1 ; NT5DC1
1 1.000 0.080 6 116125441 missense variant C/T snv 0.800 1.000 8 1994 2005
dbSNP: rs111033551
rs111033551
COL10A1 ; NT5DC1
1 1.000 0.080 6 116125440 missense variant C/G;T snv 0.800 1.000 8 1994 2005
dbSNP: rs111033552
rs111033552
COL10A1 ; NT5DC1
2 0.925 0.120 6 116120105 missense variant A/G snv 0.800 1.000 8 1994 2005
dbSNP: rs111033553
rs111033553
COL10A1 ; NT5DC1
2 0.925 0.080 6 116120332 missense variant C/T snv 0.800 1.000 8 1994 2005
dbSNP: rs111033554
rs111033554
COL10A1 ; NT5DC1
1 1.000 0.080 6 116120326 missense variant T/C snv 0.800 1.000 8 1994 2005
dbSNP: rs111033555
rs111033555
COL10A1 ; NT5DC1
1 1.000 0.080 6 116120318 missense variant A/G snv 0.800 1.000 8 1994 2005
dbSNP: rs111033543
rs111033543
COL10A1 ; NT5DC1
1 1.000 0.080 6 116120232 stop gained G/C snv 0.700 0
dbSNP: rs111033547
rs111033547
COL10A1 ; NT5DC1
1 1.000 0.080 6 116120163 stop gained C/T snv 0.700 0
dbSNP: rs111033548
rs111033548
COL10A1 ; NT5DC1
2 0.925 0.080 6 116120220 stop gained G/T snv 0.700 0
dbSNP: rs111033556
rs111033556
COL10A1 ; NT5DC1
1 1.000 0.080 6 116120284 stop gained C/T snv 0.700 0
dbSNP: rs1271742789
rs1271742789
COL10A1 ; NT5DC1
1 1.000 0.080 6 116120158 missense variant T/G snv 0.700 0
dbSNP: rs1562122372
rs1562122372
COL10A1 ; NT5DC1
1 1.000 0.080 6 116120257 frameshift variant GG/- delins 0.700 0