Variant (rsID / SNP)

rs11550699

rs11550699 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EFHD1. Location: chromosome 2, position 233,537,125. The table records no clinical significance for this variant.

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Reference-table entries

EFHD1Not classified

Variant type: missense_variant
Chromosome / position: 2:233537125
HGVS: NM_025202.4,c.557A>G,p.Lys186Arg
Allele change: Missense_K90R

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.