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rs749827445

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs749827445(C;T)
Make rs749827445(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position116928956
GeneRFX6
is asnp
is mentioned by
dbSNPrs749827445
ebirs749827445
HLIrs749827445
Exacrs749827445
Varsomers749827445
Maprs749827445
PheGenIrs749827445
hapmaprs749827445
1000 genomesrs749827445
hgdprs749827445
ensemblrs749827445
gopubmedrs749827445
geneviewrs749827445
scholarrs749827445
googlers749827445
pharmgkbrs749827445
gwascentralrs749827445
openSNPrs749827445
23andMers749827445
23andMe allrs749827445
SNP Nexus

SNPshotrs749827445
SNPdbers749827445
MSV3drs749827445
GWAS Ctlgrs749827445
Max Magnitude0
ClinVar
Risk rs749827445(T;T)
Alt rs749827445(T;T)
Reference rs749827445(C;C)
Significance Pathogenic
Disease Mitchell-Riley syndrome
Variation info
Gene RFX6
CLNDBN Mitchell-Riley syndrome
Reversed 0
HGVS NC_000006.11:g.117250119C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000208878.1,