rs386833843

Orientation

minus

Stabilized

minus

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

Make rs386833843(-;-)

Make rs386833843(-;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

144515324

Gene

RECQL4

is a	snp
is	mentioned by
dbSNP	rs386833843
dbSNP (classic)	rs386833843
ClinGen	rs386833843
ebi	rs386833843
HLI	rs386833843
Exac	rs386833843
Gnomad	rs386833843
Varsome	rs386833843
LitVar	rs386833843
Map	rs386833843
PheGenI	rs386833843
Biobank	rs386833843
1000 genomes	rs386833843
hgdp	rs386833843
ensembl	rs386833843
geneview	rs386833843
scholar	rs386833843
google	rs386833843
pharmgkb	rs386833843
gwascentral	rs386833843
openSNP	rs386833843
23andMe	rs386833843
SNPshot	rs386833843
SNPdbe	rs386833843
MSV3d	rs386833843
GWAS Ctlg	rs386833843

Max Magnitude

0

ClinVar
Risk	rs386833843(-;-)
Alt	rs386833843(-;-)
Reference	Rs386833843(T;T)
Significance	Pathogenic
Disease	Rapadilino syndrome
Variation	info
Gene	RECQL4
CLNDBN	Rapadilino syndrome
Reversed	1
HGVS	NC_000008.10:g.145740708delA
CLNSRC	ClinVar
CLNACC	RCV000049811.1,

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

[PMID 18716613] The mutation spectrum in RECQL4 diseases.