rs8192789

Overview
Prescribing Info
Drug Label Annotations
Clinical Annotations
Variant Annotations
Named Alleles
Literature
Related To
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Clinical Annotations
0
Variant Annotations
2

Associated Genes

Type

Snp

Classification

Missense

Locations

AssemblySequencePositionAllelesSource
GRCh38NC_000019.10(opens in new window)41091846
  • C > A
  • C > T
dbSnp
GRCh37NC_000019.9(opens in new window)41597751
  • C > A
  • C > T
dbSnp
NG_007928.1(opens in new window)8384
  • C > A
  • C > T
dbSnp
NP_000757.2(opens in new window)257
  • R > C
  • R > S
dbSnp

Variant Frequencies

Based on v3 genome data from the Genomes Aggregation Database(opens in new window) (gnomAD) retrieved from the Ensembl(opens in new window) API.

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Identifiers

PharmGKB ID

PA166155450

Aliases

  • NC_000019.10:g.41091846C>T
  • NC_000019.9:g.41597751C>T
  • NG_007928.1:g.8384C>T
  • NM_000766.4:c.769C>T
  • NP_000757.2:p.Arg257Cys

History

No history available.