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rs41282065

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs41282065(A;A)
Make rs41282065(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position74762028
GeneSLC9A3R1
is asnp
is mentioned by
dbSNPrs41282065
ebirs41282065
HLIrs41282065
Exacrs41282065
Varsomers41282065
Maprs41282065
PheGenIrs41282065
hapmaprs41282065
1000 genomesrs41282065
hgdprs41282065
ensemblrs41282065
gopubmedrs41282065
geneviewrs41282065
scholarrs41282065
googlers41282065
pharmgkbrs41282065
gwascentralrs41282065
openSNPrs41282065
23andMers41282065
23andMe allrs41282065
SNP Nexus

SNPshotrs41282065
SNPdbers41282065
MSV3drs41282065
GWAS Ctlgrs41282065
GMAF0.0009183
Max Magnitude0
OMIM604990
Desc
Variant0002
Relatedalso


ClinVar
Risk rs41282065(A;A)
Alt rs41282065(A;A)
Reference rs41282065(G;G)
Significance Pathogenic
Disease Nephrolithiasis/osteoporosis
Variation info
Gene SLC9A3R1
CLNDBN Nephrolithiasis/osteoporosis, hypophosphatemic, 2
Reversed 0
HGVS NC_000017.10:g.72758167G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005589.2,



GET Evidence
SLC9A3R1-R153Q
aa_change Arg153Gln
aa_change_short R153Q
impact pathogenic
qualified_impact Moderate clinical importance, Uncertain pathogenic
overall_frequency 0.0034393
summary This variant was reported in a small family, associated with kidney stones. This gene is strongly associated with causing kidney stones and osteoporosis, and the variant is computationally predicted to be damaging, but the reported cases for this variant were too few to establish any statistical significance.