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rs61750173

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61750173(A;A)
Make rs61750173(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position8014701
GeneGUCY2D
is asnp
is mentioned by
dbSNPrs61750173
dbSNP (classic)rs61750173
ClinGenrs61750173
ebirs61750173
HLIrs61750173
Exacrs61750173
Gnomadrs61750173
Varsomers61750173
LitVarrs61750173
Maprs61750173
PheGenIrs61750173
Biobankrs61750173
1000 genomesrs61750173
hgdprs61750173
ensemblrs61750173
geneviewrs61750173
scholarrs61750173
googlers61750173
pharmgkbrs61750173
gwascentralrs61750173
openSNPrs61750173
23andMers61750173
SNPshotrs61750173
SNPdbers61750173
MSV3drs61750173
GWAS Ctlgrs61750173
Max Magnitude0
OMIM600179
Desc
Variant0008
Relatedalso


ClinVar
Risk rs61750173(A;A)
Alt rs61750173(A;A)
Reference Rs61750173(G;G)
Significance Pathogenic
Disease Cone-rod dystrophy 6 not provided
Variation info
Gene GUCY2D
CLNDBN Cone-rod dystrophy 6 not provided
Reversed 0
HGVS NC_000017.10:g.7918019G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009951.2, RCV000084863.1,