Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057518978

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057518978(-;A)
Make rs1057518978(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position50892395
GeneADNP
is asnp
is mentioned by
dbSNPrs1057518978
dbSNP (classic)rs1057518978
ClinGenrs1057518978
ebirs1057518978
HLIrs1057518978
Exacrs1057518978
Gnomadrs1057518978
Varsomers1057518978
LitVarrs1057518978
Maprs1057518978
PheGenIrs1057518978
Biobankrs1057518978
1000 genomesrs1057518978
hgdprs1057518978
ensemblrs1057518978
geneviewrs1057518978
scholarrs1057518978
googlers1057518978
pharmgkbrs1057518978
gwascentralrs1057518978
openSNPrs1057518978
23andMers1057518978
23andMe allrs1057518978
SNPshotrs1057518978
SNPdbers1057518978
MSV3drs1057518978
GWAS Ctlgrs1057518978
Max Magnitude0
ClinVar
Risk rs1057518978(A;A)
Alt rs1057518978(A;A)
Reference Rs1057518978(-;-)
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.49508933dupT
CLNSRC
CLNACC RCV000414810.1,