rs786200889

Orientation

minus

Stabilized

minus

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

Make rs786200889(A;C)

Make rs786200889(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

8

Position

144512326

Gene

RECQL4

is a	snp
is	mentioned by
dbSNP	rs786200889
dbSNP (classic)	rs786200889
ClinGen	rs786200889
ebi	rs786200889
HLI	rs786200889
Exac	rs786200889
Gnomad	rs786200889
Varsome	rs786200889
LitVar	rs786200889
Map	rs786200889
PheGenI	rs786200889
Biobank	rs786200889
1000 genomes	rs786200889
hgdp	rs786200889
ensembl	rs786200889
geneview	rs786200889
scholar	rs786200889
google	rs786200889
pharmgkb	rs786200889
gwascentral	rs786200889
openSNP	rs786200889
23andMe	rs786200889
SNPshot	rs786200889
SNPdbe	rs786200889
MSV3d	rs786200889
GWAS Ctlg	rs786200889

Max Magnitude

0

ClinVar
Risk	rs786200889(C;C)
Alt	rs786200889(C;C)
Reference	Rs786200889(A;A)
Significance	Pathogenic
Disease	Baller-Gerold syndrome
Variation	info
Gene	RECQL4
CLNDBN	Baller-Gerold syndrome
Reversed	1
HGVS	NC_000008.10:g.145737709T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006448.3,