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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.