SNURF, SNRPN upstream reading frame, 8926

N. diseases: 63; N. variants: 1
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs748523454
rs748523454
Entrez Id: 6638;8926;104472715
Gene Symbol: SNRPN;SNURF;SNHG14
SNRPN;SNURF;SNHG14
CUI: C0026847
Disease:
Spinal Muscular Atrophy 		0.010 GeneticVariation BEFREE Of all 262 detected individuals, three subjects possessing different ratios of SMN1/centromeric SMN in the two exons were determined as gene conversion, and we also detected three interesting intragenic mutations (c.1 -39A>G, c.22_23insA in exon 1, c.84C>T in exon 2a) which were associated with the SMA patients owning one copy of SMN1 including two mutations never reported previously. 20564270 2010