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rs748979061

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs748979061(A;A)
Make rs748979061(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position178986876
GeneGRM6
is asnp
is mentioned by
dbSNPrs748979061
dbSNP (classic)rs748979061
ClinGenrs748979061
ebirs748979061
HLIrs748979061
Exacrs748979061
Gnomadrs748979061
Varsomers748979061
LitVarrs748979061
Maprs748979061
PheGenIrs748979061
Biobankrs748979061
1000 genomesrs748979061
hgdprs748979061
ensemblrs748979061
geneviewrs748979061
scholarrs748979061
googlers748979061
pharmgkbrs748979061
gwascentralrs748979061
openSNPrs748979061
23andMers748979061
SNPshotrs748979061
SNPdbers748979061
MSV3drs748979061
GWAS Ctlgrs748979061
Max Magnitude0
ClinVar
Risk rs748979061(A;A)
Alt rs748979061(A;A)
Reference Rs748979061(G;G)
Significance Pathogenic
Disease Congenital stationary night blindness
Variation info
Gene GRM6
CLNDBN Congenital stationary night blindness, type 1B
Reversed 0
HGVS NC_000005.9:g.178413877G>A
CLNSRC
CLNACC RCV000179789.1,