Regions of Mendelian inconsistency stretches reported by SNPTrio
ID | Genes | Type* | No of SNPs | p Value† | Coordinates | In DGV‡ | CNAG§ | Aroma¶ |
SRS-hypo-1 | PARK2 | iUPI-P | 11 | 0 | chr6:161907040-162239135 | Yes | Yes | Yes |
PRKC | iUPI-M | 5 | 0.095 | chr17:61848043-61912613 | No | Yes | Yes | |
SRS-hypo-2 | ADAMTS18 | UPI-M | 3 | 1 | chr16:75930540-75930762 | Yes | No | Yes |
SRS-hypo-9 | 12q13.2 | UPI-P | 3 | 0.002 | chr12:53281471-53282139 | No | No | No |
SRS-ue-1 | FBXL7 | UPI-M | 4 | 0 | chr5:15772222-15773106 | Yes | No | No |
18q12.1 | iUPI-P | 3 | 0.005 | chr18:24449765-24450128 | Yes | No | No | |
SRS-ue-2 | FBXL7 | UPI-M | 4 | 0 | chr5:15772222-15773106 | Yes | No | No |
SRS-ue-4 | 22q11.21-q11.22 | iUPI-M | 11 | 0 | chr22:20745811-21169559 | Yes | Yes | Yes |
SRS-ue-5 | PLEKHG7/EEA1 | iUPI-P | 12 | 0 | chr12:91357737-91875727 | No | Yes | Yes |
SRS-ue-6 | IGF1R | iUPI-M | 18 | 0 | chr15:96859330-98016953 | Yes | Yes | Yes |
IGF1R | iUPI-M | 9 | 0 | chr15:98242128-99369237 | Yes | Yes | Yes | |
SRS-ue-8 | PLSCR5 | iUPI-M | 4 | 0.001 | chr3:147771493-148053582 | Yes | No | No |
5p15.31 | iUPI-P | 3 | 0.038 | chr5:7242467-7242925 | Yes | No | No | |
21q22.3 | iUPI-M | 4 | 0.001 | chr21:45788806-45806899 | No | No | Yes | |
SRS-ue-11 | 14q31.2 | UPI-M | 4 | 0.569 | chr14:82588893-82594564 | No | Yes | No |
↵* iUPI means identical uniparental inheritance. To be called identical, the transmitting parent needs to be a heterozygote; otherwise the term UPI is used. M and P refers to maternal and paternal.
↵† p Values are calculated in SNPTrio; please see Ting et al13 for details.
↵‡ Has this region been reported to the database of genomic variants (DGV; http://projects.tcag.ca/variation/)?
↵§ Matching copy number variant identified with CNAG (see Methods)?
↵¶ Matching copy number variant identified with Aroma.Affymetrix (see Methods)?
SNP, single-nucleotide-polymorphism; SRS, Silver–Russell syndrome.