Tag

RNA Splicing

8 genetic variants with this tag.

RSID	Gene	Description	Category
rs11881940	HNRNPUL1	Intronic variant in HNRNPUL1, an RNA-processing gene highly expressed in macr...	Coronary Artery Disease & Atherosclerosis	RNA Splicing	Moderate
rs2303428	MSH2	Splice-region variant in MSH2 (c.2006-6T>C) located 6 bases upstream of exon ...	Gamete Quality & DNA Repair	RNA Splicing	Moderate
rs113809142	ABCA7 ABCA7 splice donor variant (c.4416+2T>G)	Rare splice donor variant in ABCA7 that disrupts mRNA processing, causing hap...	Neurology & Cognition	RNA Splicing	Strong
rs201227603	HPS3 HPS3 Splice Donor Variant	Splice donor variant in HPS3 that disrupts exon 5 inclusion, causing Hermansk...	Innate Immunity & Infection Defense	RNA Splicing	Established
rs36211723	MYBPC3 Asp770Asn (c.2308G>A)	Rare pathogenic missense variant at the last nucleotide of MYBPC3 exon 23, ca...	Cardiomyopathy & Structural Heart	RNA Splicing	Strong
rs3846662	HMGCR HMGCR Intron 13 Splice Variant	Intronic HMGCR variant that modulates alternative splicing of exon 13, produc...	Cholesterol & Lipoproteins	RNA Splicing	Moderate
rs2523506	DDX39B	Regulatory variant in the 5' UTR of DDX39B (RNA helicase/mRNA export factor) ...	Neurology & Cognition	RNA Splicing	Strong
rs689	INS INS VNTR (Type 1 Diabetes Susceptibility)	Tag SNP for the insulin gene VNTR promoter — shorter Class I repeats raise T1...	Blood Sugar & Diabetes	RNA Splicing	Strong