rs200334114

Orientation

plus

Stabilized

plus

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

Make rs200334114(C;G)

Make rs200334114(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

71444864

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs200334114
dbSNP (classic)	rs200334114
ClinGen	rs200334114
ebi	rs200334114
HLI	rs200334114
Exac	rs200334114
Gnomad	rs200334114
Varsome	rs200334114
LitVar	rs200334114
Map	rs200334114
PheGenI	rs200334114
Biobank	rs200334114
1000 genomes	rs200334114
hgdp	rs200334114
ensembl	rs200334114
geneview	rs200334114
scholar	rs200334114
google	rs200334114
pharmgkb	rs200334114
gwascentral	rs200334114
openSNP	rs200334114
23andMe	rs200334114
SNPshot	rs200334114
SNPdbe	rs200334114
MSV3d	rs200334114
GWAS Ctlg	rs200334114

Max Magnitude

0

ClinVar
Risk	rs200334114(G;G)
Alt	rs200334114(G;G)
Reference	Rs200334114(C;C)
Significance	Pathogenic
Disease	Smith-Lemli-Opitz syndrome
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome
Reversed	0
HGVS	NC_000011.9:g.71155910C>G
CLNSRC
CLNACC	RCV000449598.1,