Have questions? Visit https://www.reddit.com/r/SNPedia

rs137853823

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common/normal
(C;G) 2.9 possible association with stuttering
(G;G) 2.9 possible association with stuttering
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position101765042
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs137853823
ebirs137853823
HLIrs137853823
Exacrs137853823
Varsomers137853823
Maprs137853823
PheGenIrs137853823
hapmaprs137853823
1000 genomesrs137853823
hgdprs137853823
ensemblrs137853823
gopubmedrs137853823
geneviewrs137853823
scholarrs137853823
googlers137853823
pharmgkbrs137853823
gwascentralrs137853823
openSNPrs137853823
23andMers137853823
23andMe allrs137853823
SNP Nexus

SNPshotrs137853823
SNPdbers137853823
MSV3drs137853823
GWAS Ctlgrs137853823
Max Magnitude2.9
rs137853823, also known as c.1875C>G, Phe624Leu or F624L, is a variant in the GNPTAB gene on chromosome 12.

The minor (G) allele of rs137853823, as oriented on the reverse strand, was a mutation in the GNPTAB gene associated with stuttering in a 2010 study. Note that inheritance was neither dominant or recessive; this variant increased the risk of stuttering when present in either one or two copies, consistent with an additive genetic effect. Female homozygotes were apparently less affected. Note that the proportion of stutterers likely to carry a GNPTAB variant is likely to be less than 4%.[PMID 20147709OA-icon.png]


ClinVar
Risk rs137853823(A,G;A,G)
Alt rs137853823(A,G;A,G)
Reference rs137853823(C;C)
Significance Untested
Disease not provided
Variation info
Gene GNPTAB
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.102158820G>C
CLNSRC
CLNACC RCV000058934.1,