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rs137853231

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853231(A;A)
Make rs137853231(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position144516313
GeneLRRC14, RECQL4
is asnp
is mentioned by
dbSNPrs137853231
ebirs137853231
HLIrs137853231
Exacrs137853231
Varsomers137853231
Maprs137853231
PheGenIrs137853231
hapmaprs137853231
1000 genomesrs137853231
hgdprs137853231
ensemblrs137853231
gopubmedrs137853231
geneviewrs137853231
scholarrs137853231
googlers137853231
pharmgkbrs137853231
gwascentralrs137853231
openSNPrs137853231
23andMers137853231
23andMe allrs137853231
SNP Nexus

SNPshotrs137853231
SNPdbers137853231
MSV3drs137853231
GWAS Ctlgrs137853231
Max Magnitude0
OMIM603780
Desc
Variant0011
Relatedalso
ClinVar
Risk rs137853231(A,C;A,C)
Alt rs137853231(A,C;A,C)
Reference rs137853231(G;G)
Significance Pathogenic
Disease Rapadilino syndrome
Variation info
Gene RECQL4 LRRC14
CLNDBN Rapadilino syndrome
Reversed 1
HGVS NC_000008.10:g.145741697C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006444.2,