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rs1057519342

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519342(C;T)
Make rs1057519342(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position4789856
GeneAP5Z1, MIR4656
is asnp
is mentioned by
dbSNPrs1057519342
dbSNP (old)rs1057519342
ClinGenrs1057519342
ebirs1057519342
HLIrs1057519342
Exacrs1057519342
Gnomadrs1057519342
Varsomers1057519342
LitVarrs1057519342
Maprs1057519342
PheGenIrs1057519342
Biobankrs1057519342
1000 genomesrs1057519342
hgdprs1057519342
ensemblrs1057519342
gopubmedrs1057519342
geneviewrs1057519342
scholarrs1057519342
googlers1057519342
pharmgkbrs1057519342
gwascentralrs1057519342
openSNPrs1057519342
23andMers1057519342
23andMe allrs1057519342
SNPshotrs1057519342
SNPdbers1057519342
MSV3drs1057519342
GWAS Ctlgrs1057519342
Max Magnitude0
ClinVar
Risk rs1057519342(T;T)
Alt rs1057519342(T;T)
Reference Rs1057519342(C;C)
Significance Pathogenic
Disease Spastic paraplegia 48
Variation info
Gene MIR4656 AP5Z1
CLNDBN Spastic paraplegia 48, autosomal recessive
Reversed 0
HGVS NC_000007.13:g.4829487C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000416332.1,