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rs1057519383

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519383(G;T)
Make rs1057519383(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position90790948
GeneADGRV1
is asnp
is mentioned by
dbSNPrs1057519383
dbSNP (classic)rs1057519383
ClinGenrs1057519383
ebirs1057519383
HLIrs1057519383
Exacrs1057519383
Gnomadrs1057519383
Varsomers1057519383
LitVarrs1057519383
Maprs1057519383
PheGenIrs1057519383
Biobankrs1057519383
1000 genomesrs1057519383
hgdprs1057519383
ensemblrs1057519383
geneviewrs1057519383
scholarrs1057519383
googlers1057519383
pharmgkbrs1057519383
gwascentralrs1057519383
openSNPrs1057519383
23andMers1057519383
SNPshotrs1057519383
SNPdbers1057519383
MSV3drs1057519383
GWAS Ctlgrs1057519383
Max Magnitude0
ClinVar
Risk rs1057519383(A;A) rs1057519383(T;T)
Alt rs1057519383(A;A) rs1057519383(T;T)
Reference Rs1057519383(G;G)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene ADGRV1 GPR98
CLNDBN Usher syndrome, type 1
Reversed 0
HGVS NC_000005.9:g.90086765G>T
CLNSRC
CLNACC RCV000213866.1,