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rs397515562

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397515562(A;A)
Make rs397515562(A;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position60649140
GeneSIX1
is asnp
is mentioned by
dbSNPrs397515562
ebirs397515562
HLIrs397515562
Exacrs397515562
Varsomers397515562
Maprs397515562
PheGenIrs397515562
hapmaprs397515562
1000 genomesrs397515562
hgdprs397515562
ensemblrs397515562
gopubmedrs397515562
geneviewrs397515562
scholarrs397515562
googlers397515562
pharmgkbrs397515562
gwascentralrs397515562
openSNPrs397515562
23andMers397515562
23andMe allrs397515562
SNP Nexus

SNPshotrs397515562
SNPdbers397515562
MSV3drs397515562
GWAS Ctlgrs397515562
Max Magnitude0
ClinVar
Risk rs397515562(A;A)
Alt rs397515562(A;A)
Reference rs397515562(T;T)
Significance Pathogenic
Disease Melnick-Fraser syndrome
Variation info
Gene SIX1
CLNDBN Melnick-Fraser syndrome
Reversed 1
HGVS NC_000014.8:g.61115858A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000055926.1,