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rs1057518683

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518683(C;T)
Make rs1057518683(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position38351302
GeneSPRED1
is asnp
is mentioned by
dbSNPrs1057518683
dbSNP (old)rs1057518683
ClinGenrs1057518683
ebirs1057518683
HLIrs1057518683
Exacrs1057518683
Gnomadrs1057518683
Varsomers1057518683
LitVarrs1057518683
Maprs1057518683
PheGenIrs1057518683
Biobankrs1057518683
1000 genomesrs1057518683
hgdprs1057518683
ensemblrs1057518683
gopubmedrs1057518683
geneviewrs1057518683
scholarrs1057518683
googlers1057518683
pharmgkbrs1057518683
gwascentralrs1057518683
openSNPrs1057518683
23andMers1057518683
23andMe allrs1057518683
SNPshotrs1057518683
SNPdbers1057518683
MSV3drs1057518683
GWAS Ctlgrs1057518683
Max Magnitude0
ClinVar
Risk rs1057518683(T;T)
Alt rs1057518683(T;T)
Reference Rs1057518683(C;C)
Significance Pathogenic
Disease Legius syndrome
Variation info
Gene SPRED1
CLNDBN Legius syndrome
Reversed 0
HGVS NC_000015.9:g.38643503C>T
CLNSRC
CLNACC RCV000415388.1,