rs137853229

Orientation

minus

Stabilized

minus

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

Make rs137853229(C;T)

Make rs137853229(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

144513412

Gene

RECQL4

is a	snp
is	mentioned by
dbSNP	rs137853229
dbSNP (classic)	rs137853229
ClinGen	rs137853229
ebi	rs137853229
HLI	rs137853229
Exac	rs137853229
Gnomad	rs137853229
Varsome	rs137853229
LitVar	rs137853229
Map	rs137853229
PheGenI	rs137853229
Biobank	rs137853229
1000 genomes	rs137853229
hgdp	rs137853229
ensembl	rs137853229
geneview	rs137853229
scholar	rs137853229
google	rs137853229
pharmgkb	rs137853229
gwascentral	rs137853229
openSNP	rs137853229
23andMe	rs137853229
SNPshot	rs137853229
SNPdbe	rs137853229
MSV3d	rs137853229
GWAS Ctlg	rs137853229

Max Magnitude

0

OMIM	603780
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137853229(T;T)
Alt	rs137853229(T;T)
Reference	Rs137853229(C;C)
Significance	Pathogenic
Disease	Rothmund-Thomson syndrome Baller-Gerold syndrome
Variation	info
Gene	RECQL4
CLNDBN	Rothmund-Thomson syndrome Baller-Gerold syndrome
Reversed	1
HGVS	NC_000008.10:g.145738796G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006435.4, RCV000464774.1,