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rs104893968

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893968(C;T)
Make rs104893968(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position42173762
GeneGUCA1A, LOC102723882
is asnp
is mentioned by
dbSNPrs104893968
ebirs104893968
HLIrs104893968
Exacrs104893968
Varsomers104893968
Maprs104893968
PheGenIrs104893968
hapmaprs104893968
1000 genomesrs104893968
hgdprs104893968
ensemblrs104893968
gopubmedrs104893968
geneviewrs104893968
scholarrs104893968
googlers104893968
pharmgkbrs104893968
gwascentralrs104893968
openSNPrs104893968
23andMers104893968
23andMe allrs104893968
SNP Nexus

SNPshotrs104893968
SNPdbers104893968
MSV3drs104893968
GWAS Ctlgrs104893968
GMAF0.0
Max Magnitude0
OMIM600364
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104893968(G,T;G,T)
Alt rs104893968(G,T;G,T)
Reference rs104893968(C;C)
Significance Pathogenic
Disease Cone dystrophy 3
Variation info
Gene GUCA1A
CLNDBN Cone dystrophy 3
Reversed 0
HGVS NC_000006.11:g.42141500C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009722.4,