rs386833845

Orientation

minus

Stabilized

minus

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

Make rs386833845(-;-)

Make rs386833845(-;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

144514983

Gene

RECQL4

is a	snp
is	mentioned by
dbSNP	rs386833845
dbSNP (classic)	rs386833845
ClinGen	rs386833845
ebi	rs386833845
HLI	rs386833845
Exac	rs386833845
Gnomad	rs386833845
Varsome	rs386833845
LitVar	rs386833845
Map	rs386833845
PheGenI	rs386833845
Biobank	rs386833845
1000 genomes	rs386833845
hgdp	rs386833845
ensembl	rs386833845
geneview	rs386833845
scholar	rs386833845
google	rs386833845
pharmgkb	rs386833845
gwascentral	rs386833845
openSNP	rs386833845
23andMe	rs386833845
SNPshot	rs386833845
SNPdbe	rs386833845
MSV3d	rs386833845
GWAS Ctlg	rs386833845

Max Magnitude

0

ClinVar
Risk	rs386833845(-;-)
Alt	rs386833845(-;-)
Reference	Rs386833845(T;T)
Significance	Pathogenic
Disease	Rothmund-Thomson syndrome Rapadilino syndrome Baller-Gerold syndrome
Variation	info
Gene	RECQL4
CLNDBN	Rothmund-Thomson syndrome Rapadilino syndrome Baller-Gerold syndrome
Reversed	1
HGVS	NC_000008.10:g.145740367delA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006438.5, RCV000049813.1, RCV000169785.3,

[PMID 18716613] The mutation spectrum in RECQL4 diseases.