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32 variant records found

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OMIA ID(s) Species Name Breed(s) Variant Phenotype Gene Allele Type of Variant Deleterious? Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
OMIA 000636-9823 pig Membranoproliferative glomerulonephritis type II CFH missense yes c.3610T>G p.I1166R 2002 12466119
OMIA 001718-9823 pig Dwarfism, Schmid metaphyseal chondrodysplasia COL10A1 missense yes c.G>A p.G590R 2000 11130976
OMIA 000837-9823 pig Vitamin D-deficiency rickets, type I CYP27B1 deletion, gross (>20) yes the first of two deletions (173 bp or 329 bp) in the gene for cytochromome P450C1 (otherwise known as CYP27B1) 2003 12915218
OMIA 000837-9823 pig Vitamin D-deficiency rickets, type I CYP27B1 deletion, gross (>20) yes the second of two deletions (173 bp or 329 bp) in the gene for cytochromome P450C1 (otherwise known as CYP27B1) 2003 12915218
OMIA 001986-9823 pig Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation DCLRE1C splicing yes Sscrofa 10.2 10 g.51578763G>A 2015 26320255
OMIA 001986-9823 pig Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation DCLRE1C nonsense (stop-gain) yes Sscrofa 10.2 10 g.51584489G>A p.Trp267* 2015 26320255
OMIA 001685-9823 pig Stress syndrome DMD missense yes c.C>T p.R1958W 2012 22691118
OMIA 000862-9823 pig Resistance to oedema disease (F18 receptor) FUT1 missense no c.307G>A p.A103T 2000 11132149
OMIA 001089-9823 pig Blood group system ABO GGTA1 O deletion, gross (>20) no "the 0 allele has a large deletion between exon 7 of the A0 blood group gene and the neighbouring SURF6". 2011 21554350
OMIA 001952-9823 pig Microtia HOXA1 indel, small (<=20) yes c.451delinsTC 2015 26035869
OMIA 000209-9823 pig Coat colour, dominant white KIT splicing no a substitution of A for G in the first nucleotide of intron 17, resulting in the loss of exon 17 1998 9724328
OMIA 001216-9823 pig Coat colour, roan KIT splicing no a U(26) repeat in intron 5 of the KIT gene, which is likely to mediate skipping of exon 5 of the gene in some tissues including skin 2011 21749430
OMIA 001743-9823 pig Coat colour, patch KIT duplication no the patch allele comprises a 450kb duplication that includes KIT (roughly in the middle) 1998 9724328
OMIA 001745-9823 pig Bavarian Landschwein Essex Hampshire Wessex Saddleback Coat colour, white belt, KIT-related KIT complex rearrangement no Hampshire pigs (belted phenotype) have "a 4.3-kb duplication (DUP2) located ~ΒΌ100 kb upstream of KIT and a 23-kb duplication (DUP3) ~100 kb downstream of KIT, which in turn contained a fourth ~4.3-kb duplication (DUP4) not present on wild-type chromosomes". Across four breeds, belted pigs always had DUP2 and DUP4, but some lacked DUP3. 2012 23151514
OMIA 001199-9823 pig Red MC1R missense no p.A161V 1998 9799269
OMIA 001199-9823 pig Red MC1R missense no p.A243T 1998 9799269
OMIA 001199-9823 pig Dominant black MC1R missense no c.296T>C p.L99P 1998 9799269
OMIA 001199-9823 pig Dominant black MC1R missense no c.361G>A p. D121N 1998 9799269
OMIA 001199-9823 pig Bama miniature Recessive white MC1R insertion, small (<=20) no 6 c.67_68insCC p.Arg23ProfsTer33 2017 28411032
OMIA 001199-9823 pig Coat colour, black spotting on red or white background MC1R insertion, small (<=20) no nt67insCC 2001 11404341
OMIA 001401-9823 pig Rongchang Waardenburg syndrome, type 2A MITF insertion, small (<=20) yes 13 g.56482632_56482633insTTTAGTTT 2016 27349893
OMIA 000683-9823 pig Muscular hypertrophy (double muscling) MSTN regulatory yes EF490986-EF490990 g.447A>G 2008 18822098
OMIA 001200-9823 pig Tremor, high-frequency (Campus syndrome) MYH7 insertion, small (<=20) yes c.4320_4321insCCCGCC p.Ala1440_Ala1441insProAla 2012 23153285
OMIA 001579-9823 pig Chinese Erhualian Large floppy ears PPARD missense no Sscrofa10.2 7 g.36155054G>A c.95G>A p.G32E 2011 21573137 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001085-9823 pig Meat quality (Rendement Napole) PRKAG3 missense yes p.V199I 2001 11729159
OMIA 001085-9823 pig Meat quality (Rendement Napole) PRKAG3 missense yes Sscrofa10.2 15 g.133803832G>A c.599G>A p.R200Q 2000 10818001 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000621-9823 pig Malignant hyperthermia RYR1 missense yes Sscrofa10.2 6 g.42868983C>T c.1423C>T p.R475C 1991 1862346 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001334-9823 pig Sperm, short tail SPEF2 splicing yes an inserted retrotransposon within an intron 2006 16549801
OMIA 001673-9823 pig Finnish Yorkshire Spermatogenic arrest TEX14 splicing yes 12 "a 51 bp insertion within exon 27, which caused differential splicing of the exon and created a premature translation stop codon" 2011 22136159
OMIA 001249-9823 pig Chinese-Tibetan Dahe Kele Coat colour, brown TYRP1 deletion, small (<=20) no c.1484_1489del6 2011 20978532
OMIA 001362-9823 pig Coat colour, blond TYRP1 deletion, small (<=20) no g.17599_17604del p.M495_G496del 2016 26680103
OMIA 001436-9823 pig Non-shivering thermiogenesis, absence of UCP1 deletion, gross (>20) yes "exons 3 to 5 were eliminated by a deletion in the pig sequence" 2006 16933999
Overall Statistics
Total number of variants 32
Variants with genomic location 6 (18.8% )
Variants in a variant database, i.e. with rs ID 0 (0.0%)
Variant Type Count Percent
complex rearrangement 1 3.1%
deletion, gross (>20) 4 12.5%
deletion, small (<=20) 2 6.2%
duplication 1 3.1%
indel, small (<=20) 1 3.1%
insertion, small (<=20) 4 12.5%
missense 12 37.5%
nonsense (stop-gain) 1 3.1%
regulatory 1 3.1%
splicing 5 15.6%
Year First Reported Count Percent
1991 1 3.1%
1992 0 0.0%
1993 0 0.0%
1994 0 0.0%
1995 0 0.0%
1996 0 0.0%
1997 0 0.0%
1998 6 18.8%
1999 0 0.0%
2000 3 9.4%
2001 2 6.2%
2002 1 3.1%
2003 2 6.2%
2004 0 0.0%
2005 0 0.0%
2006 2 6.2%
2007 0 0.0%
2008 1 3.1%
2009 0 0.0%
2010 0 0.0%
2011 5 15.6%
2012 3 9.4%
2013 0 0.0%
2014 0 0.0%
2015 3 9.4%
2016 2 6.2%
2017 1 3.1%