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: rs1107946
rs1107946
COL1A1
2 1.000 0.040 17 50203629 intron variant A/C snv 0.80 0.700 0
dbSNP: rs11327935
rs11327935
COL1A1
2 1.000 0.040 17 50203295 intron variant AA/-;A;AAA delins 0.18 0.700 0
dbSNP: rs1800012
rs1800012
COL1A1
13 0.763 0.320 17 50200388 intron variant C/A snv 0.14 0.700 0