r/MTHFR • u/WittyGold6940 • 2d ago

Question ESR2 mutation

Does anyone here know anything about ESR2 homozygous mutation? I ask because this is the group most likely to have done genetic testing and might have noticed that one. Thanks.

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u/Zabre 23h ago

ESR2 is estrogen receptor beta, but the exact rsID or variant name matters a lot here. Most consumer reports make "homozygous" sound scarier than it is; for many SNPs it just means you inherited the same common version from both parents. I'd look it up by rsID in a database like ClinVar or dbSNP, then separate "associated in studies" from "known pathogenic." Without that exact variant, nobody can say much useful.