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Table 4 Lists of genetic variants from the personal genome project tested on VAS

From: VAS: a convenient web portal for efficient integration of genomic features with millions of genetic variants

Sample Total number of variants   PGP variants Chromosomal location dbSNP ID Clinical importance Found by VAS
hu47A9D1 960,613   APOA5-S19W chr11:116662407/chr11:116167616 rs3135506 Low Yes
    APOE-C130R chr19:45411941/chr19:50103780 rs429358 High Yes
    MBL2-G54D chr10:54531235/chr10:54201240 rs1800450 Low Yes
    MBL2-R52C chr10:54531242/chr10:54201247 rs5030737 Low Yes
    MTRR-I49M chr5:7870973/chr5:7923972 rs1801394 Low Yes
    MYO7A-R302H chr11:76869378/chr11:76547025 rs41298135 High Yes
    rs5186 chr3:148459988/chr3:149942677 rs5186 Low Yes
hu7DA960 960,613   AMPD1-Q12X chr11:115236057/chr11:115037579 rs17602729 Low Yes
    KCNE1-D85N chr21:35821680/chr21:34743549 N/A High Yes
    KRT5-G138E chr12:52913668/chr12:51199934 rs11170164 Low Yes
    MBL2-G54D chr10:54531235/chr10:54201240 rs1800450 Low Yes
    rs5186 chr3:148459988/chr3:149942677 rs5186 Low Yes
hu8D40D6 598,897   APOE-C130R chr19:45411941/chr19:50103780 rs429358 High Yes
    HFE-S65C chr6:26091185 N/A Low Yes
    MTRR-I49M chr5:7870973/chr5:7923972 rs1801394 Low Yes
    PRPH-D141Y chr12:49689404 rs58599399 High Yes
    RPF1-A91V chr10:72360387/chr10:72030392 rs35947132 Low Yes
    SERPINA1-E288V chr14:94847262/chr14:93917014 rs17580 Low Yes
hu998A3D 960,613   BTD-D444H chr3:15686693/chr3:15661696 rs13078881 Low Yes
    C3-R102G chr19:6718387/chr19:6669386 rs2230199 Moderate Yes
    COL4A1-Q1334H chr13:110818598/chr13:109616598 rs3742207 Low Yes
    HFE-S65C chr6:26091185 N/A Low Yes
    MTRR-I49M chr5:7870973/chr5:7923972 rs1801394 Low Yes
    rs5186 chr3:148459988/chr3:149942677 rs5186 Low Yes
    SERPINA1-E366K chr14:94844947/chr14:93914699 rs28929474 High Yes
hgD53911 612,647   COL4A1-Q1334H chr13:110818598/chr13:109616598 rs3742207 Low Yes
    MTRR-I49M chr5:7870973/chr5:7923972 rs1801394 Low Yes
    PKD1-R4276W chr16:2139814/chr16:2079814 rs114251396 High Yes
    rs5186 chr3:148459988/chr3:149942677 rs5186 Low Yes
    SCNN1G-E197K chr16:23200963/chr16:23108463 rs5738 Low Yes
    VWF-R854Q chr12:6143978/chr12:6014238 rs41276738 Moderate Yes
  1. The variants listed in the "PGP variants" column include likely pathogenic and rare (<2.5%) pathogenic variants according to the reports available on the Personal Genome Project Web site. The information in the "Chromosomal location", "dbSNP ID" and "Clinical importance" columns was all obtained from these reports.