rs886039916

Orientation

minus

Stabilized

minus

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

Make rs886039916(A;A)

Make rs886039916(A;C)

Reference

GRCh38.p7 38.3/149

Chromosome

12

Position

6593191

Gene

CHD4

is a	snp
is	mentioned by
dbSNP	rs886039916
dbSNP (classic)	rs886039916
ClinGen	rs886039916
ebi	rs886039916
HLI	rs886039916
Exac	rs886039916
Gnomad	rs886039916
Varsome	rs886039916
LitVar	rs886039916
Map	rs886039916
PheGenI	rs886039916
Biobank	rs886039916
1000 genomes	rs886039916
hgdp	rs886039916
ensembl	rs886039916
geneview	rs886039916
scholar	rs886039916
google	rs886039916
pharmgkb	rs886039916
gwascentral	rs886039916
openSNP	rs886039916
23andMe	rs886039916
SNPshot	rs886039916
SNPdbe	rs886039916
MSV3d	rs886039916
GWAS Ctlg	rs886039916

Max Magnitude

0

ClinVar
Risk	rs886039916(A;A)
Alt	rs886039916(A;A)
Reference	Rs886039916(C;C)
Significance	Pathogenic
Disease	Sifrim-Hitz-Weiss syndrome
Variation	info
Gene	CHD4
CLNDBN	Sifrim-Hitz-Weiss syndrome
Reversed	1
HGVS	NC_000012.11:g.6702357G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000257090.1,