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Smith-Lemli-Opitz syndrome

From SNPedia

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