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rs3816800

From SNPedia

Orientationminus
Stabilizedminus
Make rs3816800(C;C)
Make rs3816800(C;G)
Make rs3816800(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position25679947
GeneATP10A
is asnp
is mentioned by
dbSNPrs3816800
ebirs3816800
HLIrs3816800
Exacrs3816800
Varsomers3816800
Maprs3816800
PheGenIrs3816800
hapmaprs3816800
1000 genomesrs3816800
hgdprs3816800
ensemblrs3816800
gopubmedrs3816800
geneviewrs3816800
scholarrs3816800
googlers3816800
pharmgkbrs3816800
gwascentralrs3816800
openSNPrs3816800
23andMers3816800
23andMe allrs3816800
SNP Nexus

SNPshotrs3816800
SNPdbers3816800
MSV3drs3816800
GWAS Ctlgrs3816800
GMAF0.4417
Max Magnitude
? (C;C) (C;G) (G;G) 28


Venter snp
Source plos
Gene ATP10A
allele G
frequency 0.592
sift
HuRef 1103645567169
Disease Association Defects in ATP10A are a cause of Angelman syndrome (AS) (MIM:105830); also known as 'happy puppet syndrome'. AS is characterized by features of severe motor and intellectual retardation, microcephaly, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, hyperactivity, hypopigmentation, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, and an unusual facies characterized by macrostomia, a large mandible and open-mouthed expression, a great propensity for protruding the tongue ('tongue thrusting'), and an occipital groove.



[PMID 20403199OA-icon.png] High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta.


GET Evidence
ATP10A-R1298S
aa_change Arg1298Ser
aa_change_short R1298S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.486429
summary