ClinVar Miner

Submissions for variant NC_012920.1(MT-ND4):m.11719G>A

dbSNP: rs2853495
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics Division, Defence Institute of Physiology and Allied Sciences RCV003887817 SCV004698210 association Venous thromboembolism no assertion criteria provided case-control Three age and sex matched study groups were taken and whole exome sequencing was performed. 1. Healthy Subjects (n=19) 2. Sea Level Venous Thromboembolism (n=15) 3. High Altitude Venous Thromboembolism (n=6). Nature of this variant is not provided. After analysis, it was found that frequency of rs2853495 in only sea level Thromboembolism study groups. However, this SNP was absent in Healthy Subjects and high altitude Thromboembolism study groups. First time it is being reported that there is association of rs2853495 with sea level Venous thromboembolism.

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