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rs587777522

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TTAA;TTAA) 0 common in clinvar
Make rs587777522(-;-)
Make rs587777522(-;TTAA)
ReferenceGRCh38 38.1/142
Chromosome20
Position50892220
GeneADNP
is asnp
is mentioned by
dbSNPrs587777522
ebirs587777522
HLIrs587777522
Exacrs587777522
Varsomers587777522
Maprs587777522
PheGenIrs587777522
hapmaprs587777522
1000 genomesrs587777522
hgdprs587777522
ensemblrs587777522
gopubmedrs587777522
geneviewrs587777522
scholarrs587777522
googlers587777522
pharmgkbrs587777522
gwascentralrs587777522
openSNPrs587777522
23andMers587777522
23andMe allrs587777522
SNP Nexus

SNPshotrs587777522
SNPdbers587777522
MSV3drs587777522
GWAS Ctlgrs587777522
Max Magnitude0
ClinVar
Risk rs587777522(;)
Alt rs587777522(;)
Reference rs587777522(TTAA;TTAA)
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.49508757_49508760delTTAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000128574.4,