rs138659167

plus

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

Make rs138659167(G;G)

Reference

GRCh38 38.1/142

Chromosome

11

Position

71435840

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs138659167
dbSNP (classic)	rs138659167
ClinGen	rs138659167
ebi	rs138659167
HLI	rs138659167
Exac	rs138659167
Gnomad	rs138659167
Varsome	rs138659167
LitVar	rs138659167
Map	rs138659167
PheGenI	rs138659167
Biobank	rs138659167
1000 genomes	rs138659167
hgdp	rs138659167
ensembl	rs138659167
geneview	rs138659167
scholar	rs138659167
google	rs138659167
pharmgkb	rs138659167
gwascentral	rs138659167
openSNP	rs138659167
23andMe	rs138659167
SNPshot	rs138659167
SNPdbe	rs138659167
MSV3d	rs138659167
GWAS Ctlg	rs138659167

Max Magnitude

3

rs138659167, also known as c.964-1G>C in the DHCR7 gene; pathogenic for Smith-Lemli-Opitz syndrome if inherited recessively. Note that c.964-1G>T is also a reported variant for this rsID, and it is also reported in ClinVar as pathogenic for SLO syndrome.

ClinVar
Risk	rs138659167(A;A) rs138659167(G;G)
Alt	rs138659167(A;A) rs138659167(G;G)
Reference	Rs138659167(C;C)
Significance	Other
Disease	Smith-Lemli-Opitz syndrome not provided
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome not provided
Reversed	0
HGVS	NC_000011.9:g.71146886C>A; NC_000011.9:g.71146886C>G
CLNSRC	HGMD
CLNACC	RCV000383519.1, RCV000079661.5, RCV000180570.4,