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rs137853232

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853232(C;T)
Make rs137853232(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position144512319
GeneRECQL4
is asnp
is mentioned by
dbSNPrs137853232
ebirs137853232
HLIrs137853232
Exacrs137853232
Varsomers137853232
Maprs137853232
PheGenIrs137853232
hapmaprs137853232
1000 genomesrs137853232
hgdprs137853232
ensemblrs137853232
gopubmedrs137853232
geneviewrs137853232
scholarrs137853232
googlers137853232
pharmgkbrs137853232
gwascentralrs137853232
openSNPrs137853232
23andMers137853232
23andMe allrs137853232
SNP Nexus

SNPshotrs137853232
SNPdbers137853232
MSV3drs137853232
GWAS Ctlgrs137853232
GMAF0.001837
Max Magnitude0
OMIM603780
Desc
Variant0012
Relatedalso
ClinVar
Risk rs137853232(T;T)
Alt rs137853232(T;T)
Reference rs137853232(C;C)
Significance Pathogenic
Disease Baller-Gerold syndrome
Variation info
Gene RECQL4
CLNDBN Baller-Gerold syndrome
Reversed 1
HGVS NC_000008.10:g.145737702G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006445.3,