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rs397515560

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397515560(G;G)
Make rs397515560(G;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position60648873
GeneSIX1
is asnp
is mentioned by
dbSNPrs397515560
ebirs397515560
HLIrs397515560
Exacrs397515560
Varsomers397515560
Maprs397515560
PheGenIrs397515560
hapmaprs397515560
1000 genomesrs397515560
hgdprs397515560
ensemblrs397515560
gopubmedrs397515560
geneviewrs397515560
scholarrs397515560
googlers397515560
pharmgkbrs397515560
gwascentralrs397515560
openSNPrs397515560
23andMers397515560
23andMe allrs397515560
SNP Nexus

SNPshotrs397515560
SNPdbers397515560
MSV3drs397515560
GWAS Ctlgrs397515560
Max Magnitude0
ClinVar
Risk rs397515560(G;G)
Alt rs397515560(G;G)
Reference rs397515560(T;T)
Significance Pathogenic
Disease Melnick-Fraser syndrome
Variation info
Gene SIX1
CLNDBN Melnick-Fraser syndrome
Reversed 1
HGVS NC_000014.8:g.61115591A>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000055923.1,