rs886039917

Orientation

minus

Stabilized

minus

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

Make rs886039917(A;A)

Make rs886039917(A;G)

Reference

GRCh38.p7 38.3/149

Chromosome

12

Position

6588383

Gene

CHD4

is a	snp
is	mentioned by
dbSNP	rs886039917
dbSNP (classic)	rs886039917
ClinGen	rs886039917
ebi	rs886039917
HLI	rs886039917
Exac	rs886039917
Gnomad	rs886039917
Varsome	rs886039917
LitVar	rs886039917
Map	rs886039917
PheGenI	rs886039917
Biobank	rs886039917
1000 genomes	rs886039917
hgdp	rs886039917
ensembl	rs886039917
geneview	rs886039917
scholar	rs886039917
google	rs886039917
pharmgkb	rs886039917
gwascentral	rs886039917
openSNP	rs886039917
23andMe	rs886039917
SNPshot	rs886039917
SNPdbe	rs886039917
MSV3d	rs886039917
GWAS Ctlg	rs886039917

Max Magnitude

0

ClinVar
Risk	rs886039917(A;A)
Alt	rs886039917(A;A)
Reference	Rs886039917(G;G)
Significance	Pathogenic
Disease	Sifrim-Hitz-Weiss syndrome
Variation	info
Gene	CHD4
CLNDBN	Sifrim-Hitz-Weiss syndrome
Reversed	1
HGVS	NC_000012.11:g.6697549C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000257626.1,