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rs727504119

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727504119(C;T)
Make rs727504119(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position17797626
GeneRAI1
is asnp
is mentioned by
dbSNPrs727504119
ebirs727504119
HLIrs727504119
Exacrs727504119
Varsomers727504119
Maprs727504119
PheGenIrs727504119
hapmaprs727504119
1000 genomesrs727504119
hgdprs727504119
ensemblrs727504119
gopubmedrs727504119
geneviewrs727504119
scholarrs727504119
googlers727504119
pharmgkbrs727504119
gwascentralrs727504119
openSNPrs727504119
23andMers727504119
23andMe allrs727504119
SNP Nexus

SNPshotrs727504119
SNPdbers727504119
MSV3drs727504119
GWAS Ctlgrs727504119
Max Magnitude0
ClinVar
Risk rs727504119(T;T)
Alt rs727504119(T;T)
Reference rs727504119(C;C)
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.17700940C>T
CLNSRC
CLNACC RCV000153806.2, RCV000177370.1,