Cohort · demo

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Group-level statistics across de-identified records. Each record came from a lab report, a WhatsApp photo, dictated results or a VCF, read by Muse Spark and standardised by PharmCAT. Research output, not medical advice.

Records

From reports and photos

Curator verified

Variants with coverage gaps

Variant	Carriers	Carrier frequency, 95% CI	Panel did not name it	Published for India
DPYD HapB3	8/18 · 2 hom	44% (25%–66%)	6	3.3% in a WES study of 1,612 Indians (PMID 40810747)
DPYD c.85T>C (*9A)	8/20	40% (22%–61%)	4	24.9% in 2,000 Indians (PMID 33105068)
DPYD *2A	6/21	29% (14%–50%)	3	0.05–0.5% in Indian cohorts (PMID 40810747)
DPYD *13	3/20	15% (5.2%–36%)	4	—
DPYD c.2846A>T	4/19	21% (8.5%–43%)	5	—
NUDT15 *3	11/14 · 3 hom	79% (52%–92%)	4	risk allele 7–11% in Indian cohorts (PMID 29470173)
UGT1A1 *28	13/16 · 4 hom	81% (57%–93%)	2	—
UGT1A1 *6	7/16	44% (23%–67%)	2	—
TPMT *3C	11/15 · 3 hom	73% (48%–89%)	1	—
CYP2C19 *2	12/14 · 4 hom	86% (60%–96%)	2	—
CYP2C19 *17	4/14	29% (12%–55%)	2	—

Carriers have at least one copy. A record whose panel did not name a variant is left out of that variant's denominator instead of being counted as a non-carrier. Calls a curator marked unreadable are excluded. Intervals are Wilson 95% intervals. The demo cohort is synthetic benchmark reports, so its frequencies reflect the generator, not India.