{"_id":"chr2:g.160357656G>C","_version":1,"chrom":"2","clingen":{"caid":"CA59437492"},"dbsnp":{"_license":"http://bit.ly/2AqoLOc","alleles":[{"allele":"G","freq":{"dbgap_popfreq":1.0,"topmed":1.0}},{"allele":"C","freq":{"dbgap_popfreq":0.0,"topmed":0.0}}],"alt":"C","chrom":"2","dbsnp_build":156,"gene":{"geneid":5937,"is_pseudo":false,"name":"RNA binding motif single stranded interacting protein 1","rnas":[{"hgvs":"NM_002897.5:c.251+9560=","protein_product":{"refseq":"NP_002888.1"},"refseq":"NM_002897.5","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_016836.4:c.251+9560=","protein_product":{"refseq":"NP_058520.1"},"refseq":"NM_016836.4","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047445368.1:c.251+9560=","protein_product":{"refseq":"XP_047301324.1"},"refseq":"XM_047445368.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]}],"strand":"-","symbol":"RBMS1"},"hg38":{"end":160357656,"start":160357656},"ref":"G","rsid":"rs905410272","vartype":"snv"},"hg38":{"end":160357656,"start":160357656},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"effect":"intron_variant","feature_id":"NM_016836.3","feature_type":"transcript","gene_id":"RBMS1","genename":"RBMS1","hgvs_c":"c.251+9560C>G","putative_impact":"MODIFIER","rank":"2","total":"13","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_002897.4","feature_type":"transcript","gene_id":"RBMS1","genename":"RBMS1","hgvs_c":"c.251+9560C>G","putative_impact":"MODIFIER","rank":"2","total":"13","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"C","position":"160357656","ref":"G"}}