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rs376044849

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs376044849(C;T)
Make rs376044849(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position17796229
GeneRAI1
is asnp
is mentioned by
dbSNPrs376044849
ebirs376044849
HLIrs376044849
Exacrs376044849
Varsomers376044849
Maprs376044849
PheGenIrs376044849
hapmaprs376044849
1000 genomesrs376044849
hgdprs376044849
ensemblrs376044849
gopubmedrs376044849
geneviewrs376044849
scholarrs376044849
googlers376044849
pharmgkbrs376044849
gwascentralrs376044849
openSNPrs376044849
23andMers376044849
23andMe allrs376044849
SNP Nexus

SNPshotrs376044849
SNPdbers376044849
MSV3drs376044849
GWAS Ctlgrs376044849
Max Magnitude0
ClinVar
Risk rs376044849(T;T)
Alt rs376044849(T;T)
Reference rs376044849(C;C)
Significance Pathogenic
Disease Smith-Magenis syndrome
Variation info
Gene RAI1
CLNDBN Smith-Magenis syndrome
Reversed 0
HGVS NC_000017.10:g.17699543C>A
CLNSRC
CLNACC RCV000177362.1,