Lurp

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


rs2241165

Hard Link
rs2241165 is a snp on gene GAD1 (glutamate decarboxylase 1 (brain, 67kDa))

GeneGAD1 Chromosome number 2 Chromosome position 170821869
Alleles T/C (transliterated to +) Minor Allele C Minor Allele Frequency 0.3818
Notation 83-218C>T Clinical significance Orientation (dbSNP) - (negative/reverse strand)
SNP Function
Intronic
Gene Function
This gene encodes one of several forms of glutamic acid decarboxylase, which is a major target for the autoimmune response in insulin-dependent diabetes. This enzyme is responsible for the conversion of L-glutamic acid into gamma-aminobutyric acid (GABA), a neurotransmitter whose principle role is as a inhibitor of excitability in the nervous system and as a regulator of muscle tone. As a result, this gene is thought to play a role in the "Stiff Man Syndrome." Deficiency in the enzyme encoded by this gene has been shown to lead to dependency on Vitamin B6 with seizures.
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

NOT REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

NOT CURATED





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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) | rs2235544 (DIO1) | rs20541 (IL13) | rs2569191 (CD14) | rs2075252 (LRP2) | rs2844682 ()








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