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rs1057519522

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519522(C;T)
Make rs1057519522(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position129877788
GeneEBF3
is asnp
is mentioned by
dbSNPrs1057519522
dbSNP (classic)rs1057519522
ClinGenrs1057519522
ebirs1057519522
HLIrs1057519522
Exacrs1057519522
Gnomadrs1057519522
Varsomers1057519522
LitVarrs1057519522
Maprs1057519522
PheGenIrs1057519522
Biobankrs1057519522
1000 genomesrs1057519522
hgdprs1057519522
ensemblrs1057519522
geneviewrs1057519522
scholarrs1057519522
googlers1057519522
pharmgkbrs1057519522
gwascentralrs1057519522
openSNPrs1057519522
23andMers1057519522
23andMe allrs1057519522
SNPshotrs1057519522
SNPdbers1057519522
MSV3drs1057519522
GWAS Ctlgrs1057519522
Max Magnitude0
ClinVar
Risk rs1057519522(T;T)
Alt rs1057519522(T;T)
Reference Rs1057519522(C;C)
Significance Pathogenic
Disease Hypotonia
Variation info
Gene EBF3
CLNDBN Hypotonia, ataxia, and delayed development syndrome
Reversed 1
HGVS NC_000010.10:g.131676052G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000417012.1,