Genetics Genetics Research
CHROMOSOME 17 SHMT1 17p11.2 GENE VIEW SHMT1 · 17p11.2 17p12 17p10 rs1979277 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs1979277 Leucine 336 → Phenylalanine G / A · SHMT1 · 17p11.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A G Guanine — reference allele A Adenine — variant allele genetics.jdge.cc

rs1979277

Leucine 336 → Phenylalanine Gene: SHMT1 — Serine Hydroxymethyltransferase 1 Chr 17:18328782 17p11.2
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

Sort by
Total G 0.704014A 0.295986GG 0.497987GA/AG 0.412055AA 0.089959pop=294,558 ↬
African G 0.6667A 0.3333GG 0.44821GA/AG 0.436987AA 0.114803pop=27,264
African American G 0.66724A 0.33276GG 0.448794GA/AG 0.436884AA 0.114323pop=26,364
African Others G 0.651A 0.349GG 0.431111GA/AG 0.44AA 0.128889pop=900
Asian G 0.9245A 0.0755GG 0.855066GA/AG 0.138934AA 0.006pop=8,666
East Asian G 0.9284A 0.0716GG 0.862317GA/AG 0.132222AA 0.005461pop=6,958
European G 0.697163A 0.302837GG 0.486167GA/AG 0.421992AA 0.091841pop=227,066
Latin American 1 G 0.7166A 0.2834GG 0.513959GA/AG 0.405245AA 0.080795pop=4,728
Latin American 2 G 0.7623A 0.2377GG 0.586239GA/AG 0.352064AA 0.061697pop=8,720
Other G 0.70192A 0.29808GG 0.491923GA/AG 0.419998AA 0.088079pop=16,962
Other Asian G 0.9087A 0.0913GG 0.825527GA/AG 0.166276AA 0.008197pop=1,708
South Asian G 0.8168A 0.1832GG 0.675347GA/AG 0.282986AA 0.041667pop=1,152

Studies0

Unread Studies0 ▼

No new studies.

Curated Studies0 ▼

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

No curated studies yet.

Unused Studies0 ▼

No unused studies.