rs80338856

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Unaffected carrier of a Smith-Lemli-Opitz syndrome mutation

Make rs80338856(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

71438986

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs80338856
dbSNP (classic)	rs80338856
ClinGen	rs80338856
ebi	rs80338856
HLI	rs80338856
Exac	rs80338856
Gnomad	rs80338856
Varsome	rs80338856
LitVar	rs80338856
Map	rs80338856
PheGenI	rs80338856
Biobank	rs80338856
1000 genomes	rs80338856
hgdp	rs80338856
ensembl	rs80338856
geneview	rs80338856
scholar	rs80338856
google	rs80338856
pharmgkb	rs80338856
gwascentral	rs80338856
openSNP	rs80338856
23andMe	rs80338856
SNPshot	rs80338856
SNPdbe	rs80338856
MSV3d	rs80338856
GWAS Ctlg	rs80338856

Max Magnitude

3

aka c.724C>T (p.Arg242Cys)

ClinVar
Risk	rs80338856(T;T)
Alt	rs80338856(T;T)
Reference	Rs80338856(C;C)
Significance	Pathogenic
Disease	Smith-Lemli-Opitz syndrome not provided
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome not provided
Reversed	1
HGVS	NC_000011.9:g.71150032G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020438.2, RCV000389331.1,

[PMID 16207203] Recent insights into the Smith-Lemli-Opitz syndrome.