{{Rsnum
|rsid=41282065
|Gene=SLC9A3R1
|Chromosome=17
|position=74762028
|Orientation=plus
|GMAF=0.0009183
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=SLC9A3R1
}}{{omim
|id=604990
|rsnum=41282065
|variant=0002
}}

{{ClinVar
|rsid=41282065
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=72758167
|CHROM=17
|GMAF=0.0009
|dbSNPBuildID=127
|SSR=0
|SAO=1
|VP=0x050260000000040516110100
|GENEINFO=SLC9A3R1:9368
|GENE_NAME=SLC9A3R1
|GENE_ID=9368
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.72758167G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=604990.0002
|CLNSIG=5
|CLNCUI=C2676782
|CLNDBN=Nephrolithiasis/osteoporosis, hypophosphatemic, 2
|Disease=Nephrolithiasis/osteoporosis
|CLNACC=RCV000005589.1
|Tags=PM;S3D;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9991; 0.0009183
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C2676782:612287:244305
|COMMON=0
}}

{{GET Evidence
|gene=SLC9A3R1
|aa_change=Arg153Gln
|aa_change_short=R153Q
|impact=pathogenic
|qualified_impact=Moderate clinical importance, Uncertain pathogenic
|inheritance=dominant
|quality_scores=Array
|dbsnp_id=rs41282065
|overall_frequency_n=37
|overall_frequency_d=10758
|overall_frequency=0.0034393
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_familial=1
|qualitycomment_familial=Y
|qualityscore_severity=3
|qualitycomment_severity=Y
|in_omim=Y
|pph2_score=0.976
|nblosum100=0
|autoscore=4
|webscore=N
|variant_evidence=1
|clinical_importance=0
|summary_short=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.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}