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rs199547699

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199547699(A;A)
Make rs199547699(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position151859984
GeneGLRA1
is asnp
is mentioned by
dbSNPrs199547699
dbSNP (classic)rs199547699
ClinGenrs199547699
ebirs199547699
HLIrs199547699
Exacrs199547699
Gnomadrs199547699
Varsomers199547699
LitVarrs199547699
Maprs199547699
PheGenIrs199547699
Biobankrs199547699
1000 genomesrs199547699
hgdprs199547699
ensemblrs199547699
geneviewrs199547699
scholarrs199547699
googlers199547699
pharmgkbrs199547699
gwascentralrs199547699
openSNPrs199547699
23andMers199547699
SNPshotrs199547699
SNPdbers199547699
MSV3drs199547699
GWAS Ctlgrs199547699
Max Magnitude0
ClinVar
Risk rs199547699(A;A) rs199547699(T;T)
Alt rs199547699(A;A) rs199547699(T;T)
Reference Rs199547699(G;G)
Significance Probable-Pathogenic
Disease Hyperekplexia hereditary
Variation info
Gene GLRA1
CLNDBN Hyperekplexia hereditary
Reversed 0
HGVS NC_000005.9:g.151239545G>A
CLNSRC
CLNACC RCV000490459.1,