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

rs6659553

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(T;T) 0 common in clinvar
Make rs6659553(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position46189486
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs6659553
ebirs6659553
HLIrs6659553
Exacrs6659553
Varsomers6659553
Maprs6659553
PheGenIrs6659553
hapmaprs6659553
1000 genomesrs6659553
hgdprs6659553
ensemblrs6659553
gopubmedrs6659553
geneviewrs6659553
scholarrs6659553
googlers6659553
pharmgkbrs6659553
gwascentralrs6659553
openSNPrs6659553
23andMers6659553
23andMe allrs6659553
SNP Nexus

SNPshotrs6659553
SNPdbers6659553
MSV3drs6659553
GWAS Ctlgrs6659553
GMAF0.04821
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene POMGNT1
allele C
frequency 1
sift TOLERATED
HuRef 1103675084343
Disease Association Defects in POMGNT1 are a cause of Walker-Warbug syndrome (WWS) (MIM:236670); also known as HARD +/- E syndrome. This autosomal recessive disorder is characterized by hydrocephalus (H), agyria (A), retinal displasia (RD), with or without encephalocele (+/-E). WWS is often associated with FCMD (MIM:253800) and is usually lethal within the first few months of life.



GET Evidence
POMGNT1-M623V
aa_change Met623Val
aa_change_short M623V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.940138
summary



ClinVar
Risk rs6659553(C;C)
Alt rs6659553(C;C)
Reference rs6659553(T;T)
Significance Non-pathogenic
Disease not specified
Variation info
Gene POMGNT1
CLNDBN not specified
Reversed 0
HGVS NC_000001.10:g.46655158T>C
CLNSRC
CLNACC RCV000153758.3,