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dbSNP
As of build 131 (available February 2010), dbSNP had amassed over 184 million submissions representing more than 64 million distinct variants for 55…
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Papers overview
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2018
2018
Dihydropyridine receptor ( DHPR ) congenital myopathy
2018
Corpus ID: 51690700
Vanessa Schartner*, Norma B. Romero*, Sandra Donkervoort, Susan Treves, Pinki Munot, Tyler Mark Pierson, Ivana Dabaj, Edoardo…
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2015
2015
Bioinformatics approach prediction of nonsynonymous and miRNA-binding site polymorphisms within human SclA9 and Scl22A12 genes
Mohammed A. Eshage
,
Wasal A. Hamid
,
Entssar S. Taha
2015
Corpus ID: 85862452
Single nucleotide polymorphisms (SNPs) have been found in 3’UTRs that disrupt normal miRNA binding or introduce new binding sites…
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2015
2015
Variant filtering and prioritization using the Ion AmpliSeq exome trio workflow in Ion Reporter Software
2015
Corpus ID: 16560997
Genetic disease research and the implications of recent human evolution There is increasing evidence from large sequencing…
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2015
2015
A BRCA1 Frame Shift Mutation in Women of Kurdish Jewish Descent
A. Zick
,
Sherri Cohen
,
+4 authors
T. Peretz
2015
Corpus ID: 16386766
Hereditary cancer comprises more than 10% of all breast cancer cases. In patients with a family history suggestive of a…
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2014
2014
In silico Evaluation of Nonsynonymous Single Nucleotide Polymorphisms in the TDG Gene, which is Involved in Base Excision Repair
K. Shinmura
,
H. Kato
,
Masanori Goto
,
Y. Inoue
,
Satoki Nakamura
,
H. Sugimura
2014
Corpus ID: 13704103
The human TDG gene encodes a DNA glycosylase protein, which is involved in base excision repair and the regulation of gene…
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2013
2013
Whole exome sequencing analysis pipeline for the discovery of mutations causative of human rare diseases
Francisco Javier Lopez Domingo
,
A. Martin
,
+8 authors
J. Santoyo
International Work-Conference on Bioinformatics…
2013
Corpus ID: 3115559
Recent advances in high-throughput sequencing technologies have made exome sequencing to be an outstanding tool for finding…
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2009
2009
which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Whole genome sequencing of a single Bos taurus animal for SNP discovery
2009
Corpus ID: 15445091
2009
2009
The Discovery of a Pseudo SNP and its Usage in Gender Test
J. Huang
2009
Corpus ID: 73568485
Single Nucleotide Polymorphism (SNP) technology has been widely used in genome-wide association studies (GWAS). Quality control…
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2008
2008
Association of single nucleotide polymorphisms in the LPA gene region with serum Lp(a) levels and myocardial infarction
K. Neureuther
2008
Corpus ID: 17242687
Elevated serum Lp(a) levels are a risk factor for atherosclerosis and myocardial infarction. Lp(a) serum levels are highly…
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2006
2006
8th Meeting of the Irish Society of Human Genetics, Monday 19th September 2005
D. Morris
,
K. Murphy
,
+142 authors
A. Green
Ulster medical journal
2006
Corpus ID: 5418979
8th Meeting of the Irish Society of Human Genetics, Monday 19th September 2005 Postgraduate Centre, Belfast City Hospital