rs28938174

minus

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

Make rs28938174(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

71442319

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs28938174
dbSNP (classic)	rs28938174
ClinGen	rs28938174
ebi	rs28938174
HLI	rs28938174
Exac	rs28938174
Gnomad	rs28938174
Varsome	rs28938174
LitVar	rs28938174
Map	rs28938174
PheGenI	rs28938174
Biobank	rs28938174
1000 genomes	rs28938174
hgdp	rs28938174
ensembl	rs28938174
geneview	rs28938174
scholar	rs28938174
google	rs28938174
pharmgkb	rs28938174
gwascentral	rs28938174
openSNP	rs28938174
23andMe	rs28938174
SNPshot	rs28938174
SNPdbe	rs28938174
MSV3d	rs28938174
GWAS Ctlg	rs28938174

Max Magnitude

3

aka c.356A>T (p.His119Leu or H119L); note that c.356A>G (p.His119Arg) is also a known variant for rs28938174, however, it's significance is uncertain (whereas c.356A>T is pathogenic for SLO)

OMIM	602858
Desc	SMITH-LEMLI-OPITZ SYNDROME
Variant	0005
Related	also

ClinVar
Risk	rs28938174(G;G) rs28938174(T;T)
Alt	rs28938174(G;G) rs28938174(T;T)
Reference	Rs28938174(A;A)
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.71153365T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007182.6, RCV000274996.1,