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rs1057517664

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs1057517664(-;-)
Make rs1057517664(-;TT)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position65016583
GeneLOC105374778, SLC1A4
is asnp
is mentioned by
dbSNPrs1057517664
dbSNP (old)rs1057517664
ClinGenrs1057517664
ebirs1057517664
HLIrs1057517664
Exacrs1057517664
Gnomadrs1057517664
Varsomers1057517664
Maprs1057517664
PheGenIrs1057517664
Biobankrs1057517664
1000 genomesrs1057517664
hgdprs1057517664
ensemblrs1057517664
gopubmedrs1057517664
geneviewrs1057517664
scholarrs1057517664
googlers1057517664
pharmgkbrs1057517664
gwascentralrs1057517664
openSNPrs1057517664
23andMers1057517664
23andMe allrs1057517664
SNPshotrs1057517664
SNPdbers1057517664
MSV3drs1057517664
GWAS Ctlgrs1057517664
Max Magnitude0
ClinVar
Risk rs1057517664(-;-)
Alt rs1057517664(-;-)
Reference Rs1057517664(TT;TT)
Significance Pathogenic
Disease Spastic tetraplegia
Variation info
Gene SLC1A4
CLNDBN Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
Reversed 0
HGVS NC_000002.11:g.65243717_65243718delTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000412627.1,