rs137853230

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs137853230(C;T)

Make rs137853230(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

144512033

Gene

RECQL4

is a	snp
is	mentioned by
dbSNP	rs137853230
dbSNP (classic)	rs137853230
ClinGen	rs137853230
ebi	rs137853230
HLI	rs137853230
Exac	rs137853230
Gnomad	rs137853230
Varsome	rs137853230
LitVar	rs137853230
Map	rs137853230
PheGenI	rs137853230
Biobank	rs137853230
1000 genomes	rs137853230
hgdp	rs137853230
ensembl	rs137853230
geneview	rs137853230
scholar	rs137853230
google	rs137853230
pharmgkb	rs137853230
gwascentral	rs137853230
openSNP	rs137853230
23andMe	rs137853230
SNPshot	rs137853230
SNPdbe	rs137853230
MSV3d	rs137853230
GWAS Ctlg	rs137853230

Max Magnitude

0

OMIM	603780
Desc
Variant	0010
Related	also

ClinVar
Risk	rs137853230(T;T)
Alt	rs137853230(T;T)
Reference	Rs137853230(C;C)
Significance	Probable-Pathogenic
Disease	Rapadilino syndrome
Variation	info
Gene	RECQL4
CLNDBN	Rapadilino syndrome
Reversed	1
HGVS	NC_000008.10:g.145737416G>A
CLNSRC	ClinVar
CLNACC	RCV000049822.1,

[PMID 12952869] Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.