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rs112111568

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs112111568(A;T)
Make rs112111568(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position127665245
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs112111568
dbSNP (old)rs112111568
ClinGenrs112111568
ebirs112111568
HLIrs112111568
Exacrs112111568
Gnomadrs112111568
Varsomers112111568
Maprs112111568
PheGenIrs112111568
Biobankrs112111568
1000 genomesrs112111568
hgdprs112111568
ensemblrs112111568
gopubmedrs112111568
geneviewrs112111568
scholarrs112111568
googlers112111568
pharmgkbrs112111568
gwascentralrs112111568
openSNPrs112111568
23andMers112111568
23andMe allrs112111568
SNPshotrs112111568
SNPdbers112111568
MSV3drs112111568
GWAS Ctlgrs112111568
Max Magnitude0
ClinVar
Risk rs112111568(G;G) rs112111568(T;T)
Alt rs112111568(G;G) rs112111568(T;T)
Reference Rs112111568(A;A)
Significance Pathogenic
Disease not provided
Variation info
Gene STXBP1
CLNDBN not provided
Reversed 0
HGVS NC_000009.11:g.130427524A>G
CLNSRC
CLNACC RCV000423631.1,