rs386833849

Orientation

minus

Stabilized

minus

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

Make rs386833849(A;A)

Make rs386833849(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

144513713

Gene

RECQL4

is a	snp
is	mentioned by
dbSNP	rs386833849
dbSNP (classic)	rs386833849
ClinGen	rs386833849
ebi	rs386833849
HLI	rs386833849
Exac	rs386833849
Gnomad	rs386833849
Varsome	rs386833849
LitVar	rs386833849
Map	rs386833849
PheGenI	rs386833849
Biobank	rs386833849
1000 genomes	rs386833849
hgdp	rs386833849
ensembl	rs386833849
geneview	rs386833849
scholar	rs386833849
google	rs386833849
pharmgkb	rs386833849
gwascentral	rs386833849
openSNP	rs386833849
23andMe	rs386833849
SNPshot	rs386833849
SNPdbe	rs386833849
MSV3d	rs386833849
GWAS Ctlg	rs386833849

Max Magnitude

0

ClinVar
Risk	rs386833849(A;A) rs386833849(C;C) rs386833849(T;T)
Alt	rs386833849(A;A) rs386833849(C;C) rs386833849(T;T)
Reference	Rs386833849(G;G)
Significance	Pathogenic
Disease	Rothmund-Thomson syndrome Rapadilino syndrome
Variation	info
Gene	RECQL4
CLNDBN	Rothmund-Thomson syndrome Rapadilino syndrome
Reversed	1
HGVS	NC_000008.10:g.145739097C>A; NC_000008.10:g.145739097C>G; NC_000008.10:g.145739097C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006437.3, RCV000006441.3, RCV000049817.1,

[PMID 18716613] The mutation spectrum in RECQL4 diseases.