SLC10A6 S6F - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!



(SLC10A6 Ser6Phe)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • A @ chr4:87770252: 4.0% (431/10758) in EVS
  • A @ chr4:87989275: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 4.0% (431/10758)




hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr4:87770252


GS20509 - var-GS20509-1100-36-ASM
het A @ chr4:87989276


Other external references

  • rs17694522
    Web search results (3 hits -- see all)
  • SLC10A6 Gene - GeneCards | SOAT Protein | SOAT Antibody
    SLC10A6 Gene in genomic location: bands according to Ensembl, locations according to (and ... SLC10A6 for ontologies About GeneDecksing. Antibodies for SLC10A6: ...
  • Solute carrier family 10 member 6 - Homo sapiens (Human)
    SLC10A6. Synonyms: SOAT. Organism. Homo sapiens (Human) [Complete ... characterization of human sodium-dependent organic anion transporter (SLC10A6) ...
  • UniProt: SOAT_HUMAN
    AC Q3KNW5; Q70EX7; DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot. ... characterization of human sodium-dependent RT organic anion transporter (SLC10A6) ...

Other in silico analyses

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

Log in