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rs587777523

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TAAAG;TAAAG) 0 common in clinvar
(TTTA;TTTA) 0 common in clinvar
Make rs587777523(-;-)
Make rs587777523(-;TTTA)
ReferenceGRCh38 38.1/142
Chromosome20
Position50892215
GeneADNP
is asnp
is mentioned by
dbSNPrs587777523
ebirs587777523
HLIrs587777523
Exacrs587777523
Varsomers587777523
Maprs587777523
PheGenIrs587777523
hapmaprs587777523
1000 genomesrs587777523
hgdprs587777523
ensemblrs587777523
gopubmedrs587777523
geneviewrs587777523
scholarrs587777523
googlers587777523
pharmgkbrs587777523
gwascentralrs587777523
openSNPrs587777523
23andMers587777523
23andMe allrs587777523
SNP Nexus

SNPshotrs587777523
SNPdbers587777523
MSV3drs587777523
GWAS Ctlgrs587777523
Max Magnitude0
ClinVar
Risk rs587777523(TTTAG,G;TTTAG,G)
Alt rs587777523(TTTAG,G;TTTAG,G)
Reference rs587777523(TAAAG;TAAAG)
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.49508752_49508755delTTTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000128575.5,