TCHH L790M - 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.

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(TCHH Leu790Met)

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

  • T @ chr1:152083325: 13.3% (1344/10140) in EVS
  • T @ chr1:150349948: 9.4% (10/106) in GET-Evidence
  • Frequency shown in summary reports: 13.3% (1344/10140)





hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr1:152083325


hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr1:152083325




hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr1:152083325


hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr1:152083325


hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr1:152083325


hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr1:152083325



huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr1:152083325


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr1:152083325


GS19648 - var-GS19648-1100-36-ASM
het T @ chr1:150349949


GS20509 - var-GS20509-1100-36-ASM
hom T @ chr1:150349949


Other external references

  • rs11803731
  • Hair morphology (rs11803731-A)
    Medland 4-Nov-09 in Am J Hum Genet
    OR or beta: 6.11 [NR] % variance
    Risk allele frequency: 0.82
    p-value: 3.00E-31
    Initial sample: 1,649 Australian siblings, 3,196 Australian twins, 16,140 European descent individuals
    Replication sample: NR

Other in silico analyses

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 1

Edit history

Gene search

"GENE" or "GENE A123C":

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