rs121434605_6
95525085
3:46898112
3:46898112
A
G/A/T
Not specified
Not specified
-
SNP
dbSNP
Frequency~Cited~Phenotype_or_Disease~ExAC~gnomAD
pathogenic
missense variant
E/K
155
155
181
tolerated
18
316
benign
315
23001
likely benign
23
262
likely benign
261
217
tolerated
216
684
medium
683
ENST00000313049.9
Creators and SubmitterViews: 170
Created: 16th Jun 2021 at 11:05
Last updated: 16th Jun 2021 at 11:21
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Related items
Projects: SEEK Hands-On Session
Institutions: Training Institution
SEEK is introduced as a data and model management platform fitted to the needs of systems biologists to provide data access and storage due to the FAIR principles.
Programme: This Project is not associated with a Programme
Public web page: Not specified
Submitter: Guest36 Profile
Investigation: GPCR signalling
Submitter: Guest36 Profile
Assay type: SNP Detection
Technology type: SNP Array
Investigation: GPCR signalling
Creator: Guest36 Profile
Submitter: Guest36 Profile
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Variant ID (String) *, vf (String) , Location (String) , Chr: bp (String) , vf_allele (String) , Alleles (String) , gmaf_allele (String) , gmaf_freq (String) , Global MAF (String) , Class (String) , Source (String) , Evidence (String) , Clin. Sig. (String) , Conseq. Type (String) , AA (String) , AA coord (String) , AA coord_1 (String) , sift_sort (String) , sift_class (String) , SIFT (String) , polyphen_sort (String) , polyphen_class (String) , PolyPhen (String) , cadd_sort (String) , cadd_class (String) , CADD (String) , revel_sort (String) , revel_class (String) , REVEL (String) , meta_lr_sort (String) , meta_lr_class (String) , MetaLR (String) , mutation_assessor_sort (String) , mutation_assessor_class (String) , Mutation Assessor (String) , Transcript (String)
Not specified
