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rs397515384

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515384(A;A)
Make rs397515384(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position109608607
GeneGNAT2
is asnp
is mentioned by
dbSNPrs397515384
ebirs397515384
HLIrs397515384
Exacrs397515384
Varsomers397515384
Maprs397515384
PheGenIrs397515384
hapmaprs397515384
1000 genomesrs397515384
hgdprs397515384
ensemblrs397515384
gopubmedrs397515384
geneviewrs397515384
scholarrs397515384
googlers397515384
pharmgkbrs397515384
gwascentralrs397515384
openSNPrs397515384
23andMers397515384
23andMe allrs397515384
SNP Nexus

SNPshotrs397515384
SNPdbers397515384
MSV3drs397515384
GWAS Ctlgrs397515384
Max Magnitude0
ClinVar
Risk rs397515384(A;A)
Alt rs397515384(A;A)
Reference rs397515384(G;G)
Significance Pathogenic
Disease Achromatopsia 4
Variation info
Gene GNAT2
CLNDBN Achromatopsia 4
Reversed 1
HGVS NC_000001.10:g.110151229C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017276.26,