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rs398124419

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398124419(-;-)
Make rs398124419(-;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position17793360
GeneRAI1
is asnp
is mentioned by
dbSNPrs398124419
dbSNP (classic)rs398124419
ClinGenrs398124419
ebirs398124419
HLIrs398124419
Exacrs398124419
Gnomadrs398124419
Varsomers398124419
LitVarrs398124419
Maprs398124419
PheGenIrs398124419
Biobankrs398124419
1000 genomesrs398124419
hgdprs398124419
ensemblrs398124419
geneviewrs398124419
scholarrs398124419
googlers398124419
pharmgkbrs398124419
gwascentralrs398124419
openSNPrs398124419
23andMers398124419
SNPshotrs398124419
SNPdbers398124419
MSV3drs398124419
GWAS Ctlgrs398124419
Max Magnitude0
ClinVar
Risk rs398124419(-;-)
Alt rs398124419(-;-)
Reference Rs398124419(G;G)
Significance Pathogenic
Disease not provided Smith-Magenis syndrome
Variation info
Gene RAI1
CLNDBN not provided Smith-Magenis syndrome
Reversed 0
HGVS NC_000017.10:g.17696674delG
CLNSRC ClinVar
CLNACC RCV000082267.4, RCV000351208.1,