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rs199678034

From SNPedia

Orientationplus
Stabilizedplus
Make rs199678034(A;A)
Make rs199678034(A;G)
Make rs199678034(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position69326167
GeneGFPT1
is asnp
is mentioned by
dbSNPrs199678034
dbSNP (classic)rs199678034
ClinGenrs199678034
ebirs199678034
HLIrs199678034
Exacrs199678034
Gnomadrs199678034
Varsomers199678034
LitVarrs199678034
Maprs199678034
PheGenIrs199678034
Biobankrs199678034
1000 genomesrs199678034
hgdprs199678034
ensemblrs199678034
geneviewrs199678034
scholarrs199678034
googlers199678034
pharmgkbrs199678034
gwascentralrs199678034
openSNPrs199678034
23andMers199678034
23andMe allrs199678034
SNPshotrs199678034
SNPdbers199678034
MSV3drs199678034
GWAS Ctlgrs199678034
Max Magnitude

[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,