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rs104894634

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894634(A;G)
Make rs104894634(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position17797633
GeneRAI1
is asnp
is mentioned by
dbSNPrs104894634
ebirs104894634
HLIrs104894634
Exacrs104894634
Varsomers104894634
Maprs104894634
PheGenIrs104894634
hapmaprs104894634
1000 genomesrs104894634
hgdprs104894634
ensemblrs104894634
gopubmedrs104894634
geneviewrs104894634
scholarrs104894634
googlers104894634
pharmgkbrs104894634
gwascentralrs104894634
openSNPrs104894634
23andMers104894634
23andMe allrs104894634
SNP Nexus

SNPshotrs104894634
SNPdbers104894634
MSV3drs104894634
GWAS Ctlgrs104894634
Max Magnitude0
OMIM607642
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894634(C;C)
Alt rs104894634(C;C)
Reference rs104894634(A;A)
Significance Pathogenic
Disease Smith-Magenis syndrome
Variation info
Gene RAI1
CLNDBN Smith-Magenis syndrome
Reversed 0
HGVS NC_000017.10:g.17700947A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003084.2,