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rs752745051

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs752745051(G;G)
Make rs752745051(G;T)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position128055731
GeneSEC61A1
is asnp
is mentioned by
dbSNPrs752745051
dbSNP (classic)rs752745051
ClinGenrs752745051
ebirs752745051
HLIrs752745051
Exacrs752745051
Gnomadrs752745051
Varsomers752745051
LitVarrs752745051
Maprs752745051
PheGenIrs752745051
Biobankrs752745051
1000 genomesrs752745051
hgdprs752745051
ensemblrs752745051
geneviewrs752745051
scholarrs752745051
googlers752745051
pharmgkbrs752745051
gwascentralrs752745051
openSNPrs752745051
23andMers752745051
SNPshotrs752745051
SNPdbers752745051
MSV3drs752745051
GWAS Ctlgrs752745051
Max Magnitude0
ClinVar
Risk rs752745051(G;G)
Alt rs752745051(G;G)
Reference Rs752745051(T;T)
Significance Pathogenic
Disease Hyperuricemic nephropathy
Variation info
Gene SEC61A1
CLNDBN Hyperuricemic nephropathy, familial juvenile, 4
Reversed 0
HGVS NC_000003.11:g.127774574T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000239508.1,