rs746482788

Orientation

plus

Stabilized

plus

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

Make rs746482788(-;-)

Make rs746482788(-;GCTACCTGCAGGAGTCACGGCCCCCTCCTGGAT)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

71442258

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs746482788
dbSNP (classic)	rs746482788
ClinGen	rs746482788
ebi	rs746482788
HLI	rs746482788
Exac	rs746482788
Gnomad	rs746482788
Varsome	rs746482788
LitVar	rs746482788
Map	rs746482788
PheGenI	rs746482788
Biobank	rs746482788
1000 genomes	rs746482788
hgdp	rs746482788
ensembl	rs746482788
geneview	rs746482788
scholar	rs746482788
google	rs746482788
pharmgkb	rs746482788
gwascentral	rs746482788
openSNP	rs746482788
23andMe	rs746482788
SNPshot	rs746482788
SNPdbe	rs746482788
MSV3d	rs746482788
GWAS Ctlg	rs746482788

Max Magnitude

0

ClinVar
Risk	rs746482788(-;-)
Alt	rs746482788(-;-)
Reference	Rs746482788(GCTACCTGCAGGAGTCACGGCCCCCTCCTGGAT;GCTACCTGCAGGAGTCACGGCCCCCTCCTGGAT)
Significance	Probable-Pathogenic
Disease	Smith-Lemli-Opitz syndrome
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome
Reversed	0
HGVS	NC_000011.9:g.71153304_71153336del33
CLNSRC
CLNACC	RCV000411588.1,