Genetics Genetics Research
CHROMOSOME 6 RIMS1 6q13 GENE VIEW RIMS1 · 6q13 6q12 6q14 rs121918302 — ~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 rs121918302 Arginine 294 → Histidine G / A · RIMS1 · 6q13 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

rs121918302

Arginine 294 → Histidine Gene: RIMS1 — Regulating Synaptic Membrane Exocytosis 1 Chr 6:72251007 6q13 Missense Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies9

Sort by
Total G 0.999898A 0.000102GG 0.999796GA/AG 0.000204AA 0pop=371,714 ↬
African G 0.99998A 0.00002GG 0.99995GA/AG 0.00005AA 0pop=40,140
African American G 0.99997A 0.00003GG 0.999948GA/AG 0.000052AA 0pop=38,590
Asian G 0.9999A 0.0001GG 0.999796GA/AG 0.000204AA 0pop=9,818
East Asian G 0.9999A 0.0001GG 0.999745GA/AG 0.000255AA 0pop=7,850
European G 0.999891A 0.000109GG 0.999783GA/AG 0.000217AA 0pop=294,780
Latin American 2 G 0.9999A 0.0001GG 0.999731GA/AG 0.000269AA 0pop=7,436
Other G 0.99992A 0.00008GG 0.999848GA/AG 0.000152AA 0pop=13,178
South Asian G 0.9993A 0.0007GG 0.998636GA/AG 0.001364AA 0pop=2,932

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.