rs786200926

Orientation

minus

Stabilized

minus

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

Make rs786200926(A;T)

Make rs786200926(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

71442260

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs786200926
dbSNP (classic)	rs786200926
ClinGen	rs786200926
ebi	rs786200926
HLI	rs786200926
Exac	rs786200926
Gnomad	rs786200926
Varsome	rs786200926
LitVar	rs786200926
Map	rs786200926
PheGenI	rs786200926
Biobank	rs786200926
1000 genomes	rs786200926
hgdp	rs786200926
ensembl	rs786200926
geneview	rs786200926
scholar	rs786200926
google	rs786200926
pharmgkb	rs786200926
gwascentral	rs786200926
openSNP	rs786200926
23andMe	rs786200926
SNPshot	rs786200926
SNPdbe	rs786200926
MSV3d	rs786200926
GWAS Ctlg	rs786200926

Max Magnitude

0

ClinVar
Risk	rs786200926(T;T)
Alt	rs786200926(T;T)
Reference	Rs786200926(A;A)
Significance	Pathogenic
Disease	Smith-Lemli-Opitz syndrome
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome
Reversed	1
HGVS	NC_000011.9:g.71153306T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023212.5,