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rs587777030

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777030(A;A)
Make rs587777030(A;G)
ReferenceGRCh38 38.1/142
Chromosome16
Position3025804
GeneHCFC1R1, THOC6
is asnp
is mentioned by
dbSNPrs587777030
ebirs587777030
HLIrs587777030
Exacrs587777030
Varsomers587777030
Maprs587777030
PheGenIrs587777030
hapmaprs587777030
1000 genomesrs587777030
hgdprs587777030
ensemblrs587777030
gopubmedrs587777030
geneviewrs587777030
scholarrs587777030
googlers587777030
pharmgkbrs587777030
gwascentralrs587777030
openSNPrs587777030
23andMers587777030
23andMe allrs587777030
SNP Nexus

SNPshotrs587777030
SNPdbers587777030
MSV3drs587777030
GWAS Ctlgrs587777030
Max Magnitude0
ClinVar
Risk rs587777030(A;A)
Alt rs587777030(A;A)
Reference rs587777030(G;G)
Significance Pathogenic
Disease Beaulieu-Boycott-Innes syndrome
Variation info
Gene HCFC1R1 THOC6
CLNDBN Beaulieu-Boycott-Innes syndrome
Reversed 0
HGVS NC_000016.9:g.3075805G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054832.2,