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rs587777524

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777524(G;T)
Make rs587777524(T;T)
ReferenceGRCh38 38.1/142
Chromosome20
Position50893503
GeneADNP
is asnp
is mentioned by
dbSNPrs587777524
ebirs587777524
HLIrs587777524
Exacrs587777524
Varsomers587777524
Maprs587777524
PheGenIrs587777524
hapmaprs587777524
1000 genomesrs587777524
hgdprs587777524
ensemblrs587777524
gopubmedrs587777524
geneviewrs587777524
scholarrs587777524
googlers587777524
pharmgkbrs587777524
gwascentralrs587777524
openSNPrs587777524
23andMers587777524
23andMe allrs587777524
SNP Nexus

SNPshotrs587777524
SNPdbers587777524
MSV3drs587777524
GWAS Ctlgrs587777524
Max Magnitude0
ClinVar
Risk rs587777524(A,C,T;A,C,T)
Alt rs587777524(A,C,T;A,C,T)
Reference rs587777524(G;G)
Significance Pathogenic
Disease Helsmoortel-van der aa syndrome
Variation info
Gene ADNP
CLNDBN Helsmoortel-van der aa syndrome
Reversed 0
HGVS NC_000020.10:g.49510040G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000128576.4,