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rs544351411

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs544351411(C;C)
Make rs544351411(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position185400429
GeneANKRD37, UFSP2
is asnp
is mentioned by
dbSNPrs544351411
ebirs544351411
HLIrs544351411
Exacrs544351411
Varsomers544351411
Maprs544351411
PheGenIrs544351411
hapmaprs544351411
1000 genomesrs544351411
hgdprs544351411
ensemblrs544351411
gopubmedrs544351411
geneviewrs544351411
scholarrs544351411
googlers544351411
pharmgkbrs544351411
gwascentralrs544351411
openSNPrs544351411
23andMers544351411
23andMe allrs544351411
SNP Nexus

SNPshotrs544351411
SNPdbers544351411
MSV3drs544351411
GWAS Ctlgrs544351411
Max Magnitude0
ClinVar
Risk rs544351411(C;C)
Alt rs544351411(C;C)
Reference rs544351411(T;T)
Significance Probable-Pathogenic
Disease Cerebral visual impairment and intellectual disability
Variation info
Gene UFSP2 ANKRD37
CLNDBN Cerebral visual impairment and intellectual disability
Reversed 0
HGVS NC_000004.11:g.186321583T>C
CLNSRC
CLNACC RCV000210393.1,