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rs786200889

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786200889(A;C)
Make rs786200889(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position144512326
GeneRECQL4
is asnp
is mentioned by
dbSNPrs786200889
ebirs786200889
HLIrs786200889
Exacrs786200889
Varsomers786200889
Maprs786200889
PheGenIrs786200889
hapmaprs786200889
1000 genomesrs786200889
hgdprs786200889
ensemblrs786200889
gopubmedrs786200889
geneviewrs786200889
scholarrs786200889
googlers786200889
pharmgkbrs786200889
gwascentralrs786200889
openSNPrs786200889
23andMers786200889
23andMe allrs786200889
SNP Nexus

SNPshotrs786200889
SNPdbers786200889
MSV3drs786200889
GWAS Ctlgrs786200889
Max Magnitude0
ClinVar
Risk rs786200889(C;C)
Alt rs786200889(C;C)
Reference rs786200889(A;A)
Significance Pathogenic
Disease Baller-Gerold syndrome
Variation info
Gene RECQL4
CLNDBN Baller-Gerold syndrome
Reversed 1
HGVS NC_000008.10:g.145737709T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006448.3,