rs117642173

Orientation

plus

Stabilized

plus

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

Make rs117642173(C;T)

Make rs117642173(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

8

Position

144515243

Gene

RECQL4

is a	snp
is	mentioned by
dbSNP	rs117642173
dbSNP (classic)	rs117642173
ClinGen	rs117642173
ebi	rs117642173
HLI	rs117642173
Exac	rs117642173
Gnomad	rs117642173
Varsome	rs117642173
LitVar	rs117642173
Map	rs117642173
PheGenI	rs117642173
Biobank	rs117642173
1000 genomes	rs117642173
hgdp	rs117642173
ensembl	rs117642173
geneview	rs117642173
scholar	rs117642173
google	rs117642173
pharmgkb	rs117642173
gwascentral	rs117642173
openSNP	rs117642173
23andMe	rs117642173
SNPshot	rs117642173
SNPdbe	rs117642173
MSV3d	rs117642173
GWAS Ctlg	rs117642173

Max Magnitude

0

ClinVar
Risk	rs117642173(T;T)
Alt	rs117642173(T;T)
Reference	Rs117642173(C;C)
Significance	Pathogenic
Disease	Rothmund-Thomson syndrome
Variation	info
Gene	RECQL4
CLNDBN	Rothmund-Thomson syndrome
Reversed	0
HGVS	NC_000008.10:g.145740627C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006439.3,