Rs104894478

From SNPedia
Jump to: navigation, search

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894478(A;G)
Make rs104894478(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position60648804
GeneSIX1
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
Max Magnitude0
OMIM601205
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894478(G;G)
Alt rs104894478(G;G)
Reference rs104894478(A;A)
Significance Pathogenic
Disease Branchiootic syndrome 3 Melnick-Fraser syndrome
Variation info
Gene SIX1
CLNDBN Branchiootic syndrome 3 Melnick-Fraser syndrome
Reversed 1
HGVS NC_000014.8:g.61115522T>C
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000008806.1, RCV000055925.1,