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rs104894633

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894633(A;A)
Make rs104894633(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position17798371
GeneRAI1
is asnp
is mentioned by
dbSNPrs104894633
ebirs104894633
HLIrs104894633
Exacrs104894633
Varsomers104894633
Maprs104894633
PheGenIrs104894633
hapmaprs104894633
1000 genomesrs104894633
hgdprs104894633
ensemblrs104894633
gopubmedrs104894633
geneviewrs104894633
scholarrs104894633
googlers104894633
pharmgkbrs104894633
gwascentralrs104894633
openSNPrs104894633
23andMers104894633
23andMe allrs104894633
SNP Nexus

SNPshotrs104894633
SNPdbers104894633
MSV3drs104894633
GWAS Ctlgrs104894633
Max Magnitude0
OMIM607642
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894633(A;A)
Alt rs104894633(A;A)
Reference rs104894633(G;G)
Significance Pathogenic
Disease Smith-Magenis syndrome
Variation info
Gene RAI1
CLNDBN Smith-Magenis syndrome
Reversed 0
HGVS NC_000017.10:g.17701685G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003083.2,