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rs397515561

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515561(C;T)
Make rs397515561(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position60648856
GeneSIX1
is asnp
is mentioned by
dbSNPrs397515561
ebirs397515561
HLIrs397515561
Exacrs397515561
Varsomers397515561
Maprs397515561
PheGenIrs397515561
hapmaprs397515561
1000 genomesrs397515561
hgdprs397515561
ensemblrs397515561
gopubmedrs397515561
geneviewrs397515561
scholarrs397515561
googlers397515561
pharmgkbrs397515561
gwascentralrs397515561
openSNPrs397515561
23andMers397515561
23andMe allrs397515561
SNP Nexus

SNPshotrs397515561
SNPdbers397515561
MSV3drs397515561
GWAS Ctlgrs397515561
Max Magnitude0
ClinVar
Risk rs397515561(T;T)
Alt rs397515561(T;T)
Reference rs397515561(C;C)
Significance Pathogenic
Disease Melnick-Fraser syndrome
Variation info
Gene SIX1
CLNDBN Melnick-Fraser syndrome
Reversed 1
HGVS NC_000014.8:g.61115574G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000055924.1,