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rs869312178

From SNPedia

Orientationplus
Stabilizedplus
Make rs869312178(C;G)
Make rs869312178(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position90628554
GeneADGRV1
is asnp
is mentioned by
dbSNPrs869312178
dbSNP (classic)rs869312178
ClinGenrs869312178
ebirs869312178
HLIrs869312178
Exacrs869312178
Gnomadrs869312178
Varsomers869312178
LitVarrs869312178
Maprs869312178
PheGenIrs869312178
Biobankrs869312178
1000 genomesrs869312178
hgdprs869312178
ensemblrs869312178
geneviewrs869312178
scholarrs869312178
googlers869312178
pharmgkbrs869312178
gwascentralrs869312178
openSNPrs869312178
23andMers869312178
SNPshotrs869312178
SNPdbers869312178
MSV3drs869312178
GWAS Ctlgrs869312178
Max Magnitude0
ClinVar
Risk rs869312178(G;G)
Alt rs869312178(G;G)
Reference Rs869312178(C;C)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene ADGRV1
CLNDBN Usher syndrome, type 2C
Reversed 0
HGVS NC_000005.9:g.89924371C>G
CLNSRC
CLNACC RCV000210295.1,