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rs1057518991

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518991(C;T)
Make rs1057518991(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position50894041
GeneADNP
is asnp
is mentioned by
dbSNPrs1057518991
dbSNP (old)rs1057518991
ClinGenrs1057518991
ebirs1057518991
HLIrs1057518991
Exacrs1057518991
Gnomadrs1057518991
Varsomers1057518991
Maprs1057518991
PheGenIrs1057518991
Biobankrs1057518991
1000 genomesrs1057518991
hgdprs1057518991
ensemblrs1057518991
gopubmedrs1057518991
geneviewrs1057518991
scholarrs1057518991
googlers1057518991
pharmgkbrs1057518991
gwascentralrs1057518991
openSNPrs1057518991
23andMers1057518991
23andMe allrs1057518991
SNPshotrs1057518991
SNPdbers1057518991
MSV3drs1057518991
GWAS Ctlgrs1057518991
Max Magnitude0
ClinVar
Risk rs1057518991(T;T)
Alt rs1057518991(T;T)
Reference Rs1057518991(C;C)
Significance Probable-Pathogenic
Disease Autism intellectual deficiency
Variation info
Gene ADNP
CLNDBN Autism, severe intellectual deficiency
Reversed 1
HGVS NC_000020.10:g.49510578G>A
CLNSRC
CLNACC RCV000414834.1,