rs398124117

Orientation

minus

Stabilized

minus

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

Make rs398124117(C;C)

Make rs398124117(C;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

144513139

Gene

RECQL4

is a	snp
is	mentioned by
dbSNP	rs398124117
dbSNP (classic)	rs398124117
ClinGen	rs398124117
ebi	rs398124117
HLI	rs398124117
Exac	rs398124117
Gnomad	rs398124117
Varsome	rs398124117
LitVar	rs398124117
Map	rs398124117
PheGenI	rs398124117
Biobank	rs398124117
1000 genomes	rs398124117
hgdp	rs398124117
ensembl	rs398124117
geneview	rs398124117
scholar	rs398124117
google	rs398124117
pharmgkb	rs398124117
gwascentral	rs398124117
openSNP	rs398124117
23andMe	rs398124117
SNPshot	rs398124117
SNPdbe	rs398124117
MSV3d	rs398124117
GWAS Ctlg	rs398124117

Max Magnitude

0

ClinVar
Risk	rs398124117(A;A) rs398124117(C;C)
Alt	rs398124117(A;A) rs398124117(C;C)
Reference	Rs398124117(G;G)
Significance	Pathogenic
Disease	not provided Rothmund-Thomson syndrome Baller-Gerold syndrome
Variation	info
Gene	RECQL4
CLNDBN	not provided Rothmund-Thomson syndrome Baller-Gerold syndrome
Reversed	1
HGVS	NC_000008.10:g.145738522C>G
CLNSRC	ClinVar
CLNACC	RCV000080889.3, RCV000174891.1, RCV000474405.1,