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rs61750172

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61750172(C;T)
Make rs61750172(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position8014700
GeneGUCY2D
is asnp
is mentioned by
dbSNPrs61750172
ebirs61750172
HLIrs61750172
Exacrs61750172
Varsomers61750172
Maprs61750172
PheGenIrs61750172
hapmaprs61750172
1000 genomesrs61750172
hgdprs61750172
ensemblrs61750172
gopubmedrs61750172
geneviewrs61750172
scholarrs61750172
googlers61750172
pharmgkbrs61750172
gwascentralrs61750172
openSNPrs61750172
23andMers61750172
23andMe allrs61750172
SNP Nexus

SNPshotrs61750172
SNPdbers61750172
MSV3drs61750172
GWAS Ctlgrs61750172
Max Magnitude0
OMIM600179
Desc
Variant0006
Relatedalso
OMIM600179
Desc
Variant0007
Relatedalso
ClinVar
Risk rs61750172(A,T;A,T)
Alt rs61750172(A,T;A,T)
Reference rs61750172(C;C)
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.7918018C>A; NC_000017.10:g.7918018C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009948.4, RCV000084861.1, RCV000009949.3, RCV000009950.2, RCV000084862.1,