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rs1128349

From SNPedia

Orientationminus
Stabilizedminus
Make rs1128349(A;A)
Make rs1128349(A;G)
Make rs1128349(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position73683324
GeneDNAJC30, WBSCR22
is asnp
is mentioned by
dbSNPrs1128349
ebirs1128349
HLIrs1128349
Exacrs1128349
Varsomers1128349
Maprs1128349
PheGenIrs1128349
hapmaprs1128349
1000 genomesrs1128349
hgdprs1128349
ensemblrs1128349
gopubmedrs1128349
geneviewrs1128349
scholarrs1128349
googlers1128349
pharmgkbrs1128349
gwascentralrs1128349
openSNPrs1128349
23andMers1128349
23andMe allrs1128349
SNP Nexus

SNPshotrs1128349
SNPdbers1128349
MSV3drs1128349
GWAS Ctlgrs1128349
GMAF0.3448
Max Magnitude
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene WBSCR18
allele T
frequency 0.542
sift TOLERATED
HuRef 1103652612721
Disease Association 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
DNAJC30-G34R
aa_change Gly34Arg
aa_change_short G34R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.367738
summary