Genetics Genetics Research
CHROMOSOME 1 CTXND2 1q21.3 GENE VIEW CTXND2 · 1q21.3 1q20 1q22 rs7412746 — ~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 rs7412746 C / A · CTXND2 · 1q21.3 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A C Cytosine — reference allele A Adenine — variant allele genetics.jdge.cc

rs7412746

Gene: CTXND2 — Cortexin Domain Containing 2 Chr 1:150887995 1q21.3 Non Coding Transcript Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.508487T 0.491513CC 0.277748CT/TC 0.461478TT 0.260774pop=626,236 ↬
African C 0.82192T 0.17808CC 0.676746CT/TC 0.290358TT 0.032897pop=51,130
African American C 0.81886T 0.18114CC 0.671354CT/TC 0.295007TT 0.033639pop=49,348
African Others C 0.9068T 0.0932CC 0.826038CT/TC 0.161616TT 0.012346pop=1,782
Asian C 0.65325T 0.34675CC 0.423706CT/TC 0.459078TT 0.117215pop=10,630
East Asian C 0.6524T 0.3476CC 0.422081CT/TC 0.460687TT 0.117232pop=8,496
European C 0.463717T 0.536283CC 0.223441CT/TC 0.48055TT 0.296008pop=510,344
Latin American 1 C 0.601T 0.399CC 0.375472CT/TC 0.451071TT 0.173457pop=9,524
Latin American 2 C 0.64389T 0.35611CC 0.425589CT/TC 0.436608TT 0.137803pop=17,242
Other C 0.54949T 0.45051CC 0.324588CT/TC 0.449794TT 0.225617pop=19,440
Other Asian C 0.6565T 0.3435CC 0.430178CT/TC 0.452671TT 0.117151pop=2,134
South Asian C 0.6688T 0.3312CC 0.450921CT/TC 0.435781TT 0.113298pop=7,926

Studies2

Unread Studies2 ▼
1

Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3.

Study ↗ PDF ↗
PID
We performed a genome-wide association study of melanoma in a discovery cohort of 2,168 Australian individuals with melanoma and 4,387 control individuals. In this discovery phase, we confirm several previously characterized melanoma-associated loci at MC1R, ASIP and MTAP-CDKN2A. We selected variants at nine loci for replication in three independent case-control studies (Europe: 2,804 subjects with melanoma, 7,618 control subjects; United States 1: 1,804 subjects with melanoma, 1,026 control sub…

2011 · Macgregor S, Montgomery GW, Liu JZ et al.

2

Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.

Study ↗ PDF ↗
PID
We performed a multistage genome-wide association study of melanoma. In a discovery cohort of 1804 melanoma cases and 1026 controls, we identified loci at chromosomes 15q13.1 (HERC2/OCA2 region) and 16q24.3 (MC1R) regions that reached genome-wide significance within this study and also found strong evidence for genetic effects on susceptibility to melanoma from markers on chromosome 9p21.3 in the p16/ARF region and on chromosome 1q21.3 (ARNT/LASS2/ANXA9 region). The most significant single-nucle…

2011 · Amos CI, Wang LE, Lee JE et al.

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.

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Unused Studies0 ▼

No unused studies.