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rs587777525

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777525(-;-)
Make rs587777525(-;G)
ReferenceGRCh38 38.1/142
Chromosome20
Position50891906
GeneADNP
is asnp
is mentioned by
dbSNPrs587777525
ebirs587777525
HLIrs587777525
Exacrs587777525
Varsomers587777525
Maprs587777525
PheGenIrs587777525
hapmaprs587777525
1000 genomesrs587777525
hgdprs587777525
ensemblrs587777525
gopubmedrs587777525
geneviewrs587777525
scholarrs587777525
googlers587777525
pharmgkbrs587777525
gwascentralrs587777525
openSNPrs587777525
23andMers587777525
23andMe allrs587777525
SNP Nexus

SNPshotrs587777525
SNPdbers587777525
MSV3drs587777525
GWAS Ctlgrs587777525
Max Magnitude0
ClinVar
Risk rs587777525(GG,G;GG,G)
Alt rs587777525(GG,G;GG,G)
Reference rs587777525(CG;CG)
Significance Pathogenic
Disease Helsmoortel-van der aa syndrome
Variation info
Gene ADNP
CLNDBN Helsmoortel-van der aa syndrome
Reversed 1
HGVS NC_000020.10:g.49508443delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000128577.4,