Smith-Lemli-Opitz syndrome

At a minimum, these SNPs are known to be related, and others may also be

	Max Magnitude
rs104886032	0
rs104886033	3
rs104886034	0
rs104886035	3
rs104886036	0
rs104886037	0
rs104886038	3
rs104886039	3
rs104886040	0
rs104886041	3
rs104894212	3
rs104894213	3
rs1057516375	0
rs1057516493	0
rs1057516517	0
rs1057516610	0
rs1057516618	0
rs1057516783	0
rs1057516920	0
rs1057516973	0
rs1057516977	0
rs1057517070	0
rs1057517210	0
rs1057517307	0
rs11555217	3
rs121909764	3
rs121909765	3
rs121909766	3
rs121909767	3
rs121909768	3
rs138659167	3
rs142808899	3
rs143312232	3
rs200334114	0
rs201270451	3
rs28938174	3
rs373306653	0
rs398123607	3
rs61757582	3
rs746482788	0
rs750345068	3
rs756564881	0
rs774291653	0
rs775034584	3
rs779709646	9
rs781687341	0
rs786200926	0
rs80338853	3
rs80338855	3
rs80338856	3
... further results

Smith–Lemli–Opitz syndrome (also SLOS, or 7-dehydrocholesterol reductase deficiency) is an inborn error of cholesterol synthesis. It is an autosomal recessive, multiple malformation syndrome caused by a mutation in the enzyme 7-Dehydrocholesterol reductase, encoded by the DHCR7 gene. It causes a broad spectrum of effects, ranging from mild intellectual disability and behavioural problems to lethal malformations.Wikipedia

Recessively inherited mutations in the DHCR7 gene may lead to Smith-Lemli-Opitz syndrome, also called SLO, and such pathogenic mutations include:

rsid	23andMe term	synonyms (c. or p.)	OMIM	On chip?
rs104886033	i6009533	1A>G (p.Met1Val)	602858.0020	Ancestry v2, Ancestry v2c, Ancestry v2d
rs104886035	i6009559	151C>T (p.Pro51Ser)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs104886038	i6009584	203T>C (p.Leu68Pro)
rs80338853	i5008264	278C>T (p.Thr93Met)	602858.0009	Ancestry v2, Ancestry v2c, Ancestry v2d
rs104886039	i6009555	292C>T (p.Gln98Ter)		Ancestry v2c, Ancestry v2d
rs104886041	i6009582	296T>C (p.Leu99Pro)
rs121912195	rs121912195	326T>C (p.Leu109Pro)
rs28938174	rs28938174	356A>T (p.His119Leu)	602858.0005	23andMe v4, Ancestry v2, Ancestry v2c, 23andMe v3, 23andMe v2, Ancestry v2d
rs121909767	i6009543	3G>A (p.Met1Ile)	602858.0017	Ancestry v2, Ancestry v2c, Ancestry v2d
rs11555217	i5012821	452G>A (p.Trp151Ter)		23andMe v4, Ancestry v2c, 23andMe v3, 23andMe v1, 23andMe v2
rs104894213	i5008265	453G>A (p.Trp151Ter)	602858.0010	Ancestry v2, Ancestry v2c, Ancestry v2d
rs143312232		461C>G (p.Thr154Arg)		Ancestry v2, Ancestry v2d
rs143312232	i6009536	461C>T (p.Thr154Met)		Ancestry v2, Ancestry v2d
rs753960624	i5012822	470T>C (p.Leu157Pro)
rs80338855	rs80338855	506C>T (p.Ser169Leu)		Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
rs368269558	i6009564	523G>C (p.Asp175His)
rs536394774	i6009626	545G>T (p.Trp182Leu)
rs766299724	i6009619	575C>T (p.Ser192Phe)
rs373121544	i6009565	670G>A (p.Glu224Lys)
rs775773057	i6009622	682C>T (p.Arg228Trp)
rs80338856	rs80338856	724C>T (p.Arg242Cys)		Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
rs80338857	rs80338857	725G>A (p.Arg242His)		Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
rs777248132	i6009557	728C>G (p.Pro243Arg)
rs121909764		730G>A (p.Gly244Arg)	602858.0006	Ancestry v2, Ancestry v2d
rs104894212	i5900602, i6009627	744G>T (p.Trp248Cys)	602858.0008	Ancestry v2, Ancestry v2c, Ancestry v2d
rs80338863		832-1G>C	602858.0001	Ancestry v2, Ancestry v2c, Ancestry v2d
rs121909766	i5008269	839A>G (p.Tyr280Cys)	602858.0016	Ancestry v2, Ancestry v2c, Ancestry v2d
rs398123607	i6009577	841G>A (p.Val281Met)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs184297154		852C>A (p.Phe284Leu)	602858.0019
rs766495775	i6009532	861C>A (p.Asn287Lys)
rs121909765	i5008268	866C>T (p.Thr289Ile)	602858.0015	Ancestry v2, Ancestry v2c, Ancestry v2d
rs80338858		906C>G (p.Phe302Leu)		Ancestry v2d
rs142808899	i6009576	907G>A (p.Gly303Arg)		Ancestry v2c, Ancestry v2d
rs138659167	rs138659167	964-1G>C		23andMe v5
rs80338859	rs80338859	976G>T (p.Val326Leu)	602858.0011	23andMe v5
rs80338860	i5008267	1054C>T (p.Arg352Trp)	602858.0013	Ancestry v2, Ancestry v2c, Ancestry v2d
rs121909768	i5008274, i5012824	1055G>A (p.Arg352Gln)	602858.0021	Ancestry v2c, Ancestry v2d
rs750345068	i6009628	111G>A (p.Trp37Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs779709646	i5012826	1139G>A (p.Cys380Tyr)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs773134475	i6009621	1190C>T (p.Ser397Leu)
rs61757582	rs61757582	1210C>T (p.Arg404Cys)	602858.0014	23andMe v4, Ancestry v2, 23andMe v5, Ancestry v2c, 23andMe v3, Ancestry v2d
rs80338862	rs80338862	1228G>A (p.Gly410Ser)		Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
rs535561852		1327C>T (p.Arg443Cys)
rs751604696	i6009572	1337G>A (p.Arg446Gln)
rs80338864	i5008271, rs80338864	1342G>A (p.Glu448Lys)	602858.0018	Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
rs761458977		1351T>C (p.Cys451Arg)
rs201270451	i6009580	1384T>C (p.Tyr462His)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs201150384		1406G>C (p.Arg469Pro)		23andMe v5
rs775034584	i6009578	1426T>C (p.Ter476Gln)		Ancestry v2, Ancestry v2c, Ancestry v2d