Rs104894478

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Orientationminus
is asnp
is mentioned by
dbSNPrs104894478
PheGenIrs104894478
nextbiors104894478
hapmaprs104894478
1000 genomesrs104894478
hgdprs104894478
ensemblrs104894478
gopubmedrs104894478
geneviewrs104894478
scholarrs104894478
googlers104894478
pharmgkbrs104894478
gwascentralrs104894478
openSNPrs104894478
23andMers104894478
23andMe allrs104894478
SNP Nexus

SNPshotrs104894478
SNPdbers104894478
MSV3drs104894478
GeneSIX1
Chromosome14
Orientationminus
Position61115522
ReferenceGRCh37 37.1/132
Max Magnitude0
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894478(A;G)
Make rs104894478(G;G)
OMIM601205
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894478(G;G)
Alt rs104894478(G;G)
Reference rs104894478(A;A)
Significance 5
Disease Branchiootic syndrome 3, Melnick-Fraser syndrome
ClinVar info
Gene SIX1
CLNDBN Branchiootic syndrome 3, Melnick-Fraser syndrome
Reversed 1
CLNHGVS NC_000014.8:g.61115522T>C
CLNSRC GeneReviews, OMIM Allelic Variant
CLNACC RCV000008806.1, RCV000055925.1