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rs398124117

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398124117(C;C)
Make rs398124117(C;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position144513139
GeneRECQL4
is asnp
is mentioned by
dbSNPrs398124117
ebirs398124117
HLIrs398124117
Exacrs398124117
Varsomers398124117
Maprs398124117
PheGenIrs398124117
hapmaprs398124117
1000 genomesrs398124117
hgdprs398124117
ensemblrs398124117
gopubmedrs398124117
geneviewrs398124117
scholarrs398124117
googlers398124117
pharmgkbrs398124117
gwascentralrs398124117
openSNPrs398124117
23andMers398124117
23andMe allrs398124117
SNP Nexus

SNPshotrs398124117
SNPdbers398124117
MSV3drs398124117
GWAS Ctlgrs398124117
Max Magnitude0
ClinVar
Risk rs398124117(A,C;A,C)
Alt rs398124117(A,C;A,C)
Reference rs398124117(G;G)
Significance Pathogenic
Disease not provided Rothmund-Thomson syndrome
Variation info
Gene RECQL4
CLNDBN not provided Rothmund-Thomson syndrome
Reversed 1
HGVS NC_000008.10:g.145738522C>G
CLNSRC ClinVar
CLNACC RCV000080889.3, RCV000174891.1,