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rs727504978

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACAA;ACAA) 0 common in clinvar
Make rs727504978(-;-)
Make rs727504978(-;ACAA)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position90725555
GeneADGRV1, LOC105379077
is asnp
is mentioned by
dbSNPrs727504978
dbSNP (old)rs727504978
ClinGenrs727504978
ebirs727504978
HLIrs727504978
Exacrs727504978
Gnomadrs727504978
Varsomers727504978
Maprs727504978
PheGenIrs727504978
Biobankrs727504978
1000 genomesrs727504978
hgdprs727504978
ensemblrs727504978
gopubmedrs727504978
geneviewrs727504978
scholarrs727504978
googlers727504978
pharmgkbrs727504978
gwascentralrs727504978
openSNPrs727504978
23andMers727504978
23andMe allrs727504978
SNP Nexus

SNPshotrs727504978
SNPdbers727504978
MSV3drs727504978
GWAS Ctlgrs727504978
Max Magnitude0
ClinVar
Risk rs727504978(-;-)
Alt rs727504978(-;-)
Reference Rs727504978(ACAA;ACAA)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene ADGRV1 GPR98
CLNDBN Usher syndrome, type 2C
Reversed 0
HGVS NC_000005.9:g.90021372_90021375delACAA
CLNSRC
CLNACC RCV000156391.1,