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rs1057518986

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518986(C;G)
Make rs1057518986(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position70766250
GeneAUTS2
is asnp
is mentioned by
dbSNPrs1057518986
dbSNP (classic)rs1057518986
ClinGenrs1057518986
ebirs1057518986
HLIrs1057518986
Exacrs1057518986
Gnomadrs1057518986
Varsomers1057518986
LitVarrs1057518986
Maprs1057518986
PheGenIrs1057518986
Biobankrs1057518986
1000 genomesrs1057518986
hgdprs1057518986
ensemblrs1057518986
geneviewrs1057518986
scholarrs1057518986
googlers1057518986
pharmgkbrs1057518986
gwascentralrs1057518986
openSNPrs1057518986
23andMers1057518986
23andMe allrs1057518986
SNPshotrs1057518986
SNPdbers1057518986
MSV3drs1057518986
GWAS Ctlgrs1057518986
Max Magnitude0
ClinVar
Risk rs1057518986(G;G)
Alt rs1057518986(G;G)
Reference Rs1057518986(C;C)
Significance Probable-Pathogenic
Disease Pierre Robin-like syndrome
Variation info
Gene AUTS2
CLNDBN Pierre Robin-like syndrome
Reversed 0
HGVS NC_000007.13:g.70231236C>G
CLNSRC
CLNACC RCV000415119.1,