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rs1057518699

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518699(C;T)
Make rs1057518699(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position65524113
GeneLAS1L
is asnp
is mentioned by
dbSNPrs1057518699
dbSNP (old)rs1057518699
ClinGenrs1057518699
ebirs1057518699
HLIrs1057518699
Exacrs1057518699
Gnomadrs1057518699
Varsomers1057518699
Maprs1057518699
PheGenIrs1057518699
Biobankrs1057518699
1000 genomesrs1057518699
hgdprs1057518699
ensemblrs1057518699
gopubmedrs1057518699
geneviewrs1057518699
scholarrs1057518699
googlers1057518699
pharmgkbrs1057518699
gwascentralrs1057518699
openSNPrs1057518699
23andMers1057518699
23andMe allrs1057518699
SNPshotrs1057518699
SNPdbers1057518699
MSV3drs1057518699
GWAS Ctlgrs1057518699
Max Magnitude0
ClinVar
Risk rs1057518699(T;T)
Alt rs1057518699(T;T)
Reference Rs1057518699(C;C)
Significance Probable-Pathogenic
Disease Global developmental delay
Variation info
Gene LAS1L
CLNDBN Global developmental delay
Reversed 1
HGVS NC_000023.10:g.64743993G>A
CLNSRC
CLNACC RCV000415340.1,