{{Rsnum
|rsid=119460973
|Chromosome=6
|Orientation=minus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=OSTM1
|position=108074616
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=OSTM1
}}{{omim
|id=607649
|rsnum=119460973
|variant=0003
}}{{ClinVar
|rsid=119460973
|Reversed=1
|FwdREF=T
|FwdALT=A
|REF=A
|ALT=T
|RSPOS=108395820
|CHROM=6
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=OSTM1:28962
|GENE_NAME=OSTM1
|GENE_ID=28962
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000006.11:g.108395820A>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=607649.0003
|CLNSIG=5
|CLNCUI=C1968603
|CLNDBN=Osteopetrosis autosomal recessive 5
|Disease=Osteopetrosis autosomal recessive 5
|CLNACC=RCV000003078.1
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1968603:259720:85179
}}