1 161003087 161003087 C T comments: rs1000050, a SNP in Illumina SNP arrays
1 84647761 84647761 C T comments: rs6576700 or SNP_A-1780419, a SNP in Affymetrix SNP arrays
1 13133880 13133881 TC - comments: rs59770105, a 2-bp deletion
1 11326183 11326183 - AT comments: rs35561142, a 2-bp insertion
1 105293754 105293754 A ATAAA comments: rs10552169, a block substitution
1 67478546 67478546 G A comments: rs11209026 (R381Q), a SNP in IL23R associated with Crohn's disease
2 233848107 233848107 T C comments: rs2241880 (T300A), a SNP in the ATG16L1 associated with Crohn's disease
16 49303427 49303427 C T comments: rs2066844 (R702W), a non-synonymous SNP in NOD2
16 49314041 49314041 G C comments: rs2066845 (G908R), a non-synonymous SNP in NOD2
16 49321279 49321279 - C comments: rs2066847 (c.3016_3017insC), a frameshift SNP in NOD2
13 19661686 19661686 G - comments: rs1801002 (del35G), a frameshift mutation in GJB2, associated with hearing loss
13 19695176 20003944 0 - comments: a 342kb deletion encompassing GJB6, associated with hearing loss
