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rs587777526

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777526(C;C)
Make rs587777526(C;G)
ReferenceGRCh38 38.1/142
Chromosome20
Position50892557
GeneADNP
is asnp
is mentioned by
dbSNPrs587777526
ebirs587777526
HLIrs587777526
Exacrs587777526
Varsomers587777526
Maprs587777526
PheGenIrs587777526
hapmaprs587777526
1000 genomesrs587777526
hgdprs587777526
ensemblrs587777526
gopubmedrs587777526
geneviewrs587777526
scholarrs587777526
googlers587777526
pharmgkbrs587777526
gwascentralrs587777526
openSNPrs587777526
23andMers587777526
23andMe allrs587777526
SNP Nexus

SNPshotrs587777526
SNPdbers587777526
MSV3drs587777526
GWAS Ctlgrs587777526
Max Magnitude0
ClinVar
Risk rs587777526(A,C;A,C)
Alt rs587777526(A,C;A,C)
Reference rs587777526(G;G)
Significance Pathogenic
Disease Helsmoortel-van der aa syndrome Inborn genetic diseases
Variation info
Gene ADNP
CLNDBN Helsmoortel-van der aa syndrome Inborn genetic diseases
Reversed 0
HGVS NC_000020.10:g.49509094G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000128578.5, RCV000190684.1,