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rs869320758

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs869320758(-;TGCGGGCG)
Make rs869320758(TGCGGGCG;TGCGGGCG)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position95535182
GeneGLRX5, SCARNA13, SNHG10
is asnp
is mentioned by
dbSNPrs869320758
dbSNP (classic)rs869320758
ClinGenrs869320758
ebirs869320758
HLIrs869320758
Exacrs869320758
Gnomadrs869320758
Varsomers869320758
LitVarrs869320758
Maprs869320758
PheGenIrs869320758
Biobankrs869320758
1000 genomesrs869320758
hgdprs869320758
ensemblrs869320758
geneviewrs869320758
scholarrs869320758
googlers869320758
pharmgkbrs869320758
gwascentralrs869320758
openSNPrs869320758
23andMers869320758
SNPshotrs869320758
SNPdbers869320758
MSV3drs869320758
GWAS Ctlgrs869320758
Max Magnitude0
ClinVar
Risk rs869320758(CGGGCGTG;CGGGCGTG)
Alt rs869320758(CGGGCGTG;CGGGCGTG)
Reference Rs869320758(-;-)
Significance Pathogenic
Disease Spasticity
Variation info
Gene SNHG10 SCARNA13 GLRX5
CLNDBN Spasticity, childhood-onset, with hyperglycinemia
Reversed 0
HGVS NC_000014.8:g.96001512_96001519dupTGCGGGCG
CLNSRC OMIM Allelic Variant
CLNACC RCV000210190.1,