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Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


Rs119103263

Hard Link
is a snp on gene MFN2 (mitofusin 2)

GeneMFN2 Chromosome number 1 Chromosome position 11992659
Alleles C/T Minor Allele Minor Allele Frequency
Notation Clinical significance Pathogenic Orientation (dbSNP) + (positive/forward strand)
Gene Function
This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
This SNP is reported by one or more services.


23andme V3

NOT REPORTED




23andme V4

NOT REPORTED




23andme V5

NOT REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

REPORTED




Opus 23 Curated

NOT CURATED




CLINVAR Curated

CURATED




GWAS Curated

NOT CURATED





MOST RECENT SEARCHES:
rs769217 (CAT) | rs1599971 (PTPN22) | rs12730735 (PTPN22) | rs2187668 (HLA-DQA1) | rs119461976 (SECISBP2) | rs119461977 (SECISBP2) | rs730880269 (SECISBP2) | rs356219 (LOC105377329) | rs8176719 (ABO) | rs77375493 (JAK2) | rs16942 (BRCA1)

MOST FREQUENTLY SEARCHED:
rs1801133 (MTHFR) | rs9939609 (FTO) | rs1799941 (SHBG) | rs1801181 (CBS) | rs6025 (F5) | rs4680 (COMT) | rs20541 (IL13) | rs2235544 (DIO1) | rs2569191 (CD14) | rs2075252 (LRP2) | rs2844682 ()








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