rs386833854

Orientation

minus

Stabilized

minus

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

Make rs386833854(-;-)

Make rs386833854(-;CG)

Reference

GRCh38 38.1/141

Chromosome

8

Position

144511458

Gene	MFSD3, RECQL4

is a	snp
is	mentioned by
dbSNP	rs386833854
dbSNP (classic)	rs386833854
ClinGen	rs386833854
ebi	rs386833854
HLI	rs386833854
Exac	rs386833854
Gnomad	rs386833854
Varsome	rs386833854
LitVar	rs386833854
Map	rs386833854
PheGenI	rs386833854
Biobank	rs386833854
1000 genomes	rs386833854
hgdp	rs386833854
ensembl	rs386833854
geneview	rs386833854
scholar	rs386833854
google	rs386833854
pharmgkb	rs386833854
gwascentral	rs386833854
openSNP	rs386833854
23andMe	rs386833854
SNPshot	rs386833854
SNPdbe	rs386833854
MSV3d	rs386833854
GWAS Ctlg	rs386833854

Max Magnitude

0

ClinVar
Risk	rs386833854(-;-)
Alt	rs386833854(-;-)
Reference	Rs386833854(CG;CG)
Significance	Probable-Pathogenic
Disease	Rapadilino syndrome
Variation	info
Gene	MFSD3 RECQL4
CLNDBN	Rapadilino syndrome
Reversed	1
HGVS	NC_000008.10:g.145736841_145736842delCG
CLNSRC	ClinVar
CLNACC	RCV000049823.1,

[PMID 18716613] The mutation spectrum in RECQL4 diseases.