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rs199678034

From SNPedia

[PMID 27569544OA-icon.png] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.

ClinVar
Risk rs199678034(A;A) rs199678034(T;T)
Alt rs199678034(A;A) rs199678034(T;T)
Reference rs199678034(G;G)
Significance Unknown
Disease Congenital myasthenic syndrome with tubular aggregates 1
Variation info
Gene GFPT1
CLNDBN Congenital myasthenic syndrome with tubular aggregates 1
Reversed 0
HGVS NC_000002.11:g.69553299G>T
CLNSRC
CLNACC RCV000190590.1,