VCF variant results

Post SSRI Sexual Dysfunction Syndrome (PSSD)

42F took 40mg Celexa 12 years and basically CT and reinstated 1.5 months later briefly! Have had PSSD for 20 months

These are the variants that from my VCF. The first thing i noticed is one of my HSD17B2 copies is STOP GAINED. it converts testosterone into androstenedione. Add that into the fact that I have issues with SLC22A2 (a pattern we are seeing repeatedly) and then issues with the ABCC4 gene class you get catastrophy! Then add that into my ARIDIA being messed up so its hard for me to reset epigenetically. My variants fit Doc Ps theory like a glove.I DONT have any issues with the CYP gene class (that i know of yet) further increasing the correlation between increased exposure and developing PSSD, as 40 mg of celexa is a MEGADOSE. Thank you all! And thank you u/drwillpowers

Gene: HSD17B2

Variant: c.97C>T

Protein: p.Gln33Ter

rsID: not shown

Zygosity: Het

Ref Allele: C

Alt Allele: T

Freq: 0.00 allele frequency

REVEL: not applicable / stop gained

Gene: SLC22A2

Variant: c.1316G>A

Protein: p.Gly439Glu

rsID: rs141405449

Zygosity: Het

Ref Allele: C

Alt Allele: T

Freq: 0.0000460 allele frequency

REVEL: 0.846

Gene: LRP2

Variant: c.6850A>G

Protein: p.Thr2284Ala

rsID: rs35413340

Zygosity: Het

Ref Allele: T

Alt Allele: C

Freq: 0.00192 allele frequency

REVEL: 0.322

Gene: PIEZO1

Variant: c.3000C>A

Protein: p.Phe1000Leu

rsID: rs568280615

Zygosity: Het

Ref Allele: G

Alt Allele: T

Freq: 0.000376 allele frequency

REVEL: 0.440

Gene: NOS1

Variant: c.1783G>A

Protein: p.Gly595Ser

rsID: rs41356652

Zygosity: Het

Ref Allele: C

Alt Allele: T

Freq: 0.00358 allele frequency

REVEL: 0.383

Gene: ABCC4

Variant: c.2326G>A

Protein: p.Val776Ile

rsID: rs146708960

Zygosity: Het

Ref Allele: C

Alt Allele: T

Freq: 0.000164 allele frequency

REVEL: 0.169

Gene: UGT1A8

Variant: c.431C>T

Protein: p.Ala144Val

rsID: rs17862841

Zygosity: Het

Ref Allele: C

Alt Allele: T

Freq: 0.00364 allele frequency

REVEL: 0.139

Gene: HSD17B2

Variant: c.676A>G

Protein: p.Met226Val

rsID: rs117437228

Zygosity: Het

Ref Allele: A

Alt Allele: G

Freq: 0.00754 allele frequency

REVEL: 0.124

Gene: DRD4

Variant: c.815G>A

Protein: p.Gly272Asp

rsID: rs749976218

Zygosity: Het

Ref Allele: G

Alt Allele: A

Freq: 0.000922 allele frequency

REVEL: 0.135

Gene: DRD4

Variant: c.812G>A

Protein: p.Arg271Gln

rsID: rs767239460

Zygosity: Het

Ref Allele: G

Alt Allele: A

Freq: 0.00166 allele frequency

REVEL: 0.042

Gene: HTR1A

Variant: c.82A>G

Protein: p.Ile28Val

rsID: rs1799921

Zygosity: Het

Ref Allele: T

Alt Allele: C

Freq: 0.00930 allele frequency

REVEL: 0.049

Gene: ABCC4

Variant: c.52C>A

Protein: p.Leu18Ile

rsID: rs11568681

Zygosity: Het

Ref Allele: G

Alt Allele: T

Freq: 0.0154 allele frequency

REVEL: 0.030

Gene: CHD7

Variant: c.1018A>G

Protein: p.Met340Val

rsID: rs41305525

Zygosity: Het

Ref Allele: A

Alt Allele: G

Freq: 0.00496 allele frequency

REVEL: 0.323

Gene: EP300

Variant: c.631G>A

Protein: p.Gly211Ser

rsID: rs142030651

Zygosity: Het

Ref Allele: G

Alt Allele: A

Freq: 0.00635 allele frequency

REVEL: 0.352

Gene: SMARCA5

Variant: c.649T>G

Protein: p.Ser217Ala

rsID: rs945618863

Zygosity: Het

Ref Allele: T

Alt Allele: G

Freq: 0.00 genomes / 0.0000103 exomes

REVEL: 0.322

Gene: KMT2D

Variant: c.877C>T

Protein: p.Ala293Val

rsID: rs199547661

Zygosity: Het

Ref Allele: G

Alt Allele: A

Freq: 0.00217 allele frequency

REVEL: 0.209

Gene: NCOR2

Variant: c.3542C>T

Protein: p.Pro1181Leu

rsID: rs200304507

Zygosity: Het

Ref Allele: G

Alt Allele: A

Freq: 0.000599 allele frequency

REVEL: 0.219

Gene: EP400

Variant: c.257A>G

Protein: p.Asn86Ser

rsID: rs117023015

Zygosity: Het

Ref Allele: A

Alt Allele: G

Freq: 0.00738 allele frequency

REVEL: 0.212

Gene: ARID1A

Variant: c.3999_4001del

Protein: p.Gln1334del

rsID: rs374564889

Zygosity: Het

Ref Allele: CGCA

Alt Allele: C

Freq: 0.0000460 allele frequency

REVEL: not applicable / in-frame deletion

Gene: CHD3

Variant: c.*31C>A

Protein: 3 prime UTR / non-canonical missense annotation

rsID: rs201176893

Zygosity: Het

Ref Allele: C

Alt Allele: A

Freq: 0.00126 allele frequency

REVEL: not shown

Gene: HSP90AA1

Variant: c.836_838del

Protein: p.Lys279del

rsID: rs747755226

Zygosity: Het

Ref Allele: ATCT

Alt Allele: A

Freq: 0.000805 allele frequency

REVEL: not applicable / in-frame deletion

Gene: MED16

Variant: c.2630C>T

Protein: p.Pro877Leu

rsID: rs146602511

Zygosity: Het

Ref Allele: G

Alt Allele: A

Freq: 0.00421 allele frequency

REVEL: 0.018

Gene: MED15

Variant: c.781_786dup

Protein: p.Gln261_Gln262dup

rsID: not shown

Zygosity: Het

Ref Allele: A

Alt Allele: ACAGCAG

Freq: 0.0120 allele frequency

REVEL: not applicable / in-frame insertion

Gene: UHRF1

Variant: c.1135G>A

Protein: p.Glu379Lys

rsID: rs17885791

Zygosity: Het

Ref Allele: G

Alt Allele: A

Freq: 0.00851 allele frequency

REVEL: 0.096

Gene: PLIN2

Variant: c.1072C>T

Protein: p.Arg358Cys

rsID: rs564077653

Zygosity: Het

Ref Allele: G

Alt Allele: A

Freq: 0.0000394 allele frequency

REVEL: 0.151

Gene: MC4R

Variant: c.307G>A

Protein: p.Val103Ile

rsID: rs2229616

Zygosity: Het

Ref Allele: C

Alt Allele: T

Freq: 0.0154 allele frequency

REVEL: 0.050

Gene: MT-ND4

Variant: c.1252T>C

Protein: p.Ser418Pro

rsID: rs86829144

Zygosity: Hom

Ref Allele: T

Alt Allele: C

Freq: gnomAD link

REVEL: not shown

Gene: MT-ATP6

Variant: c.334A>G

Protein: p.Thr112Ala

rsID: rs2001031

Zygosity: Hom

Ref Allele: A

Alt Allele: G

Freq: gnomAD link

REVEL: not shown

Gene: MT-ATP8

Variant: c.28C>T

Protein: p.Pro10Ser

rsID: rs1556423442

Zygosity: Hom

Ref Allele: C

Alt Allele: T

Freq: gnomAD link

REVEL: not shown

Gene: MT-CYB

Variant: c.52T>C

Protein: p.Phe18Leu

rsID: rs2857681

Zygosity: Hom

Ref Allele: T

Alt Allele: C

Freq: gnomAD link

REVEL: not shown

Gene: MT-CYB

Variant: c.20C>T

Protein: p.Thr7Ile

rsID: rs193302980

Zygosity: Hom

Ref Allele: C

Alt Allele: T

Freq: gnomAD link

REVEL: not shown

Gene: MT-CYB

Variant: c.580A>G

Protein: p.Thr194Ala

rsID: rs2853508

Zygosity: Hom

Ref Allele: A

Alt Allele: G

Freq: gnomAD link

REVEL: not shown

Posted Jul 6, 2026, 1:21 PM UTC