rs886039915

Orientation

minus

Stabilized

minus

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

Make rs886039915(A;A)

Make rs886039915(A;G)

Reference

GRCh38.p7 38.3/149

Chromosome

12

Position

6591713

Gene

CHD4

is a	snp
is	mentioned by
dbSNP	rs886039915
dbSNP (classic)	rs886039915
ClinGen	rs886039915
ebi	rs886039915
HLI	rs886039915
Exac	rs886039915
Gnomad	rs886039915
Varsome	rs886039915
LitVar	rs886039915
Map	rs886039915
PheGenI	rs886039915
Biobank	rs886039915
1000 genomes	rs886039915
hgdp	rs886039915
ensembl	rs886039915
geneview	rs886039915
scholar	rs886039915
google	rs886039915
pharmgkb	rs886039915
gwascentral	rs886039915
openSNP	rs886039915
23andMe	rs886039915
SNPshot	rs886039915
SNPdbe	rs886039915
MSV3d	rs886039915
GWAS Ctlg	rs886039915

Max Magnitude

0

ClinVar
Risk	rs886039915(A;A)
Alt	rs886039915(A;A)
Reference	Rs886039915(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.6700879C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000256595.1,