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rs707746

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs707746(A;G)
Make rs707746(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position43071794
GenePSG2
is asnp
is mentioned by
dbSNPrs707746
ebirs707746
HLIrs707746
Exacrs707746
Varsomers707746
Maprs707746
PheGenIrs707746
hapmaprs707746
1000 genomesrs707746
hgdprs707746
ensemblrs707746
gopubmedrs707746
geneviewrs707746
scholarrs707746
googlers707746
pharmgkbrs707746
gwascentralrs707746
openSNPrs707746
23andMers707746
23andMe allrs707746
SNP Nexus

SNPshotrs707746
SNPdbers707746
MSV3drs707746
GWAS Ctlgrs707746
Max Magnitude0
https://www.23andme.com/you/community/thread/14602/

http://www.cell.com/AJHG/retrieve/pii/S0002929712003576 10.1016/j.ajhg.2012.07.002 Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor ... Functional considerations suggest that the pathogenic effects of ET-specific FUS mutations are different from the effects observed when FUS is mutated in amyotrophic lateral sclerosis cases; we have shown that the ET FUS nonsense mutation is degraded by the nonsense-mediated-decay pathway, whereas amyotrophic lateral sclerosis FUS mutant transcripts are not...

This snp was flagged as Suspect: Variation suspected to be false positive due to artifacts of the presence of a paralogous sequence in the genome (Musumeci et al. 2010) (Sudmant et al. 2010) or evidence suggested sequencing error or computation artifacts.