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rs672601360

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs672601360(A;G)
Make rs672601360(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position100993209
GeneC10orf2, TWNK
is asnp
is mentioned by
dbSNPrs672601360
dbSNP (classic)rs672601360
ClinGenrs672601360
ebirs672601360
HLIrs672601360
Exacrs672601360
Gnomadrs672601360
Varsomers672601360
LitVarrs672601360
Maprs672601360
PheGenIrs672601360
Biobankrs672601360
1000 genomesrs672601360
hgdprs672601360
ensemblrs672601360
geneviewrs672601360
scholarrs672601360
googlers672601360
pharmgkbrs672601360
gwascentralrs672601360
openSNPrs672601360
23andMers672601360
SNPshotrs672601360
SNPdbers672601360
MSV3drs672601360
GWAS Ctlgrs672601360
Max Magnitude0
ClinVar
Risk rs672601360(G;G)
Alt rs672601360(G;G)
Reference Rs672601360(A;A)
Significance Pathogenic
Disease Perrault syndrome 5
Variation info
Gene C10orf2
CLNDBN Perrault syndrome 5
Reversed 0
HGVS NC_000010.10:g.102752966A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000149471.6,