{{Rsnum
|rsid=1128349
|Gene=DNAJC30
|Chromosome=7
|position=73683324
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.3448
|Gene_s=DNAJC30,WBSCR22
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 18.6 | 62.8 | 18.6
| HCB | 12.4 | 45.3 | 42.3
| JPT | 6.2 | 39.8 | 54.0
| YRI | 8.8 | 24.5 | 66.7
| ASW | 1.8 | 33.3 | 64.9
| CHB | 12.4 | 45.3 | 42.3
| CHD | 13.8 | 44.0 | 42.2
| GIH | 8.9 | 36.6 | 54.5
| LWK | 6.4 | 33.6 | 60.0
| MEX | 3.4 | 41.4 | 55.2
| MKK | 10.9 | 47.4 | 41.7
| TSI | 18.6 | 43.1 | 38.2
| HapMapRevision=28
}}{{Venter SNP
|rsid=1128349
|allele=T
|frequency=0.542
|uid=1103652612721
|type=homozygous_SNP
|hugo=WBSCR18
|ensembl gene=ENSG00000176410
|ensembl transcript=ENST00000324842
|sift=TOLERATED
|disease=Haploinsufficiency of WBSCR18 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in Williams-Beuren syndrome (WBS), a rare developmental disorder. It is a contiguous gene deletion syndrome involving genes from chromosome band 7q11.23.
}}

{{GET Evidence
|gene=DNAJC30
|aa_change=Gly34Arg
|aa_change_short=G34R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1128349
|overall_frequency_n=3937
|overall_frequency_d=10706
|overall_frequency=0.367738
|n_genomes=28
|n_genomes_annotated=0
|n_haplomes=33
|n_articles=0
|n_articles_annotated=0
|pph2_score=0.001
|nblosum100=6
|autoscore=0
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}