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rs587783631

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCACCCGCCG;CCACCCGCCG) 0 common in clinvar
Make rs587783631(-;-)
Make rs587783631(-;ACCCGCCGCC)
Make rs587783631(ACCCGCCGCC;ACCCGCCGCC)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position28767449
GeneFOXG1
is asnp
is mentioned by
dbSNPrs587783631
dbSNP (old)rs587783631
ClinGenrs587783631
ebirs587783631
HLIrs587783631
Exacrs587783631
Gnomadrs587783631
Varsomers587783631
Maprs587783631
PheGenIrs587783631
Biobankrs587783631
1000 genomesrs587783631
hgdprs587783631
ensemblrs587783631
gopubmedrs587783631
geneviewrs587783631
scholarrs587783631
googlers587783631
pharmgkbrs587783631
gwascentralrs587783631
openSNPrs587783631
23andMers587783631
23andMe allrs587783631
SNP Nexus

SNPshotrs587783631
SNPdbers587783631
MSV3drs587783631
GWAS Ctlgrs587783631
Max Magnitude0
ClinVar
Risk rs587783631(-;-)
Alt rs587783631(-;-)
Reference Rs587783631(CCACCCGCCG;CCACCCGCCG)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene FOXG1
CLNDBN Rett syndrome, congenital variant
Reversed 0
HGVS NC_000014.8:g.29236655_29236664delACCCGCCGCC
CLNSRC
CLNACC RCV000145983.1,