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rs587777117

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777117(G;T)
Make rs587777117(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position92834833
GeneFAM69A, RPL5
is asnp
is mentioned by
dbSNPrs587777117
dbSNP (classic)rs587777117
ClinGenrs587777117
ebirs587777117
HLIrs587777117
Exacrs587777117
Gnomadrs587777117
Varsomers587777117
LitVarrs587777117
Maprs587777117
PheGenIrs587777117
Biobankrs587777117
1000 genomesrs587777117
hgdprs587777117
ensemblrs587777117
geneviewrs587777117
scholarrs587777117
googlers587777117
pharmgkbrs587777117
gwascentralrs587777117
openSNPrs587777117
23andMers587777117
SNPshotrs587777117
SNPdbers587777117
MSV3drs587777117
GWAS Ctlgrs587777117
Max Magnitude0
ClinVar
Risk rs587777117(T;T)
Alt rs587777117(T;T)
Reference Rs587777117(G;G)
Significance Pathogenic
Disease Aase syndrome
Variation info
Gene RPL5 FAM69A
CLNDBN Aase syndrome
Reversed 0
HGVS NC_000001.10:g.93300390G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000087038.3,