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rs587777706

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777706(A;A)
Make rs587777706(A;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position42820527
GeneBMS1
is asnp
is mentioned by
dbSNPrs587777706
dbSNP (classic)rs587777706
ClinGenrs587777706
ebirs587777706
HLIrs587777706
Exacrs587777706
Gnomadrs587777706
Varsomers587777706
LitVarrs587777706
Maprs587777706
PheGenIrs587777706
Biobankrs587777706
1000 genomesrs587777706
hgdprs587777706
ensemblrs587777706
geneviewrs587777706
scholarrs587777706
googlers587777706
pharmgkbrs587777706
gwascentralrs587777706
openSNPrs587777706
23andMers587777706
SNPshotrs587777706
SNPdbers587777706
MSV3drs587777706
GWAS Ctlgrs587777706
Max Magnitude0
ClinVar
Risk rs587777706(A;A)
Alt rs587777706(A;A)
Reference Rs587777706(G;G)
Significance Pathogenic
Disease Aplasia cutis congenita
Variation info
Gene BMS1
CLNDBN Aplasia cutis congenita
Reversed 0
HGVS NC_000010.10:g.43315975G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000144047.4,