SNP Links for Protein (Select 530424077) - SNP

Links from Protein

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Select item 14888308071.

rs1488830807 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:68372064 (GRCh38)
16:68405967 (GRCh37)
Canonical SPDI:: NC_000016.10:68372063:G:T
Gene:: SMPD3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.68372064G>T, NC_000016.9:g.68405967G>T, XM_005256032.4:c.118C>A, XM_005256032.3:c.118C>A, XM_005256032.2:c.118C>A, XM_005256032.1:c.118C>A, NM_018667.4:c.118C>A, NM_018667.3:c.118C>A, XR_933371.3:n.481C>A, XR_933371.2:n.457C>A, XR_933371.1:n.454C>A, XM_011523210.3:c.118C>A, XM_011523210.2:c.118C>A, XM_011523210.1:c.118C>A, XM_017023406.2:c.118C>A, XM_017023406.1:c.118C>A, XM_011523207.2:c.118C>A, XM_011523207.1:c.118C>A, XM_047434338.1:c.118C>A, XM_047434339.1:c.118C>A, XM_047434340.1:c.118C>A, XM_047434337.1:c.118C>A, XM_047434341.1:c.118C>A, XM_047434336.1:c.118C>A, XP_005256089.1:p.Pro40Thr, NP_061137.1:p.Pro40Thr, XP_011521512.1:p.Pro40Thr, XP_016878895.1:p.Pro40Thr, XP_011521509.1:p.Pro40Thr, XP_047290294.1:p.Pro40Thr, XP_047290295.1:p.Pro40Thr, XP_047290296.1:p.Pro40Thr, XP_047290293.1:p.Pro40Thr, XP_047290297.1:p.Pro40Thr, XP_047290292.1:p.Pro40Thr

Select item 14871353472.

rs1487135347 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:68363794 (GRCh38)
16:68397697 (GRCh37)
Canonical SPDI:: NC_000016.10:68363793:T:G
Gene:: SMPD3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.68363794T>G, NC_000016.9:g.68397697T>G, XM_005256032.4:c.1628A>C, XM_005256032.3:c.1628A>C, XM_005256032.2:c.1628A>C, XM_005256032.1:c.1628A>C, NM_018667.4:c.1628A>C, NM_018667.3:c.1628A>C, XM_017023406.2:c.1628A>C, XM_017023406.1:c.1628A>C, XM_011523207.2:c.1628A>C, XM_011523207.1:c.1628A>C, XM_047434338.1:c.1628A>C, XM_047434339.1:c.1628A>C, XM_047434340.1:c.1628A>C, XM_047434337.1:c.1628A>C, XM_047434341.1:c.1628A>C, XM_047434336.1:c.1628A>C, XP_005256089.1:p.Glu543Ala, NP_061137.1:p.Glu543Ala, XP_016878895.1:p.Glu543Ala, XP_011521509.1:p.Glu543Ala, XP_047290294.1:p.Glu543Ala, XP_047290295.1:p.Glu543Ala, XP_047290296.1:p.Glu543Ala, XP_047290293.1:p.Glu543Ala, XP_047290297.1:p.Glu543Ala, XP_047290292.1:p.Glu543Ala

Select item 14868166073.

rs1486816607 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:68365064 (GRCh38)
16:68398967 (GRCh37)
Canonical SPDI:: NC_000016.10:68365063:T:C
Gene:: SMPD3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (Korea1K)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.00137/4 (KOREAN)
HGVS:: NC_000016.10:g.68365064T>C, NC_000016.9:g.68398967T>C, XM_005256032.4:c.1352A>G, XM_005256032.3:c.1352A>G, XM_005256032.2:c.1352A>G, XM_005256032.1:c.1352A>G, NM_018667.4:c.1352A>G, NM_018667.3:c.1352A>G, XR_933371.3:n.2218A>G, XR_933371.2:n.2194A>G, XR_933371.1:n.2191A>G, XM_017023406.2:c.1352A>G, XM_017023406.1:c.1352A>G, XM_011523207.2:c.1352A>G, XM_011523207.1:c.1352A>G, XM_047434338.1:c.1352A>G, XM_047434339.1:c.1352A>G, XM_047434340.1:c.1352A>G, XM_047434337.1:c.1352A>G, XM_047434341.1:c.1352A>G, XM_047434336.1:c.1352A>G, XP_005256089.1:p.Gln451Arg, NP_061137.1:p.Gln451Arg, XP_016878895.1:p.Gln451Arg, XP_011521509.1:p.Gln451Arg, XP_047290294.1:p.Gln451Arg, XP_047290295.1:p.Gln451Arg, XP_047290296.1:p.Gln451Arg, XP_047290293.1:p.Gln451Arg, XP_047290297.1:p.Gln451Arg, XP_047290292.1:p.Gln451Arg

Select item 14855738794.

rs1485573879 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:68361746 (GRCh38)
16:68395649 (GRCh37)
Canonical SPDI:: NC_000016.10:68361745:C:T
Gene:: SMPD3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.68361746C>T, NC_000016.9:g.68395649C>T, XM_005256032.4:c.1723G>A, XM_005256032.3:c.1723G>A, XM_005256032.2:c.1723G>A, XM_005256032.1:c.1723G>A, NM_018667.4:c.1723G>A, NM_018667.3:c.1723G>A, XM_017023406.2:c.1723G>A, XM_017023406.1:c.1723G>A, XM_011523207.2:c.1723G>A, XM_011523207.1:c.1723G>A, XM_047434338.1:c.1723G>A, XM_047434339.1:c.1723G>A, XM_047434340.1:c.1723G>A, XM_047434337.1:c.1723G>A, XM_047434341.1:c.1723G>A, XM_047434336.1:c.1723G>A, XP_005256089.1:p.Glu575Lys, NP_061137.1:p.Glu575Lys, XP_016878895.1:p.Glu575Lys, XP_011521509.1:p.Glu575Lys, XP_047290294.1:p.Glu575Lys, XP_047290295.1:p.Glu575Lys, XP_047290296.1:p.Glu575Lys, XP_047290293.1:p.Glu575Lys, XP_047290297.1:p.Glu575Lys, XP_047290292.1:p.Glu575Lys

Select item 14836151325.

rs1483615132 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:68371803 (GRCh38)
16:68405706 (GRCh37)
Canonical SPDI:: NC_000016.10:68371802:C:T
Gene:: SMPD3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000016.10:g.68371803C>T, NC_000016.9:g.68405706C>T, XM_005256032.4:c.379G>A, XM_005256032.3:c.379G>A, XM_005256032.2:c.379G>A, XM_005256032.1:c.379G>A, NM_018667.4:c.379G>A, NM_018667.3:c.379G>A, XR_933371.3:n.742G>A, XR_933371.2:n.718G>A, XR_933371.1:n.715G>A, XM_011523210.3:c.379G>A, XM_011523210.2:c.379G>A, XM_011523210.1:c.379G>A, XM_017023406.2:c.379G>A, XM_017023406.1:c.379G>A, XM_011523207.2:c.379G>A, XM_011523207.1:c.379G>A, XM_047434338.1:c.379G>A, XM_047434339.1:c.379G>A, XM_047434340.1:c.379G>A, XM_047434337.1:c.379G>A, XM_047434341.1:c.379G>A, XM_047434336.1:c.379G>A, XP_005256089.1:p.Ala127Thr, NP_061137.1:p.Ala127Thr, XP_011521512.1:p.Ala127Thr, XP_016878895.1:p.Ala127Thr, XP_011521509.1:p.Ala127Thr, XP_047290294.1:p.Ala127Thr, XP_047290295.1:p.Ala127Thr, XP_047290296.1:p.Ala127Thr, XP_047290293.1:p.Ala127Thr, XP_047290297.1:p.Ala127Thr, XP_047290292.1:p.Ala127Thr

Select item 14835010766.

rs1483501076 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCCG [Show Flanks]
Chromosome:: 16:68371417 (GRCh38)
16:68405321 (GRCh37)
Canonical SPDI:: NC_000016.10:68371417:GGCCGGCCG:GGCCGGCCGGCCG
Gene:: SMPD3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGCCGGCCGGCCG=0./0 (ALFA)
GGCC=0.000004/1 (TOPMED)
GGCC=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.68371419GCCG[3], NC_000016.9:g.68405322GCCG[3], XM_005256032.4:c.761_764dup, XM_005256032.3:c.761_764dup, XM_005256032.2:c.761_764dup, XM_005256032.1:c.761_764dup, NM_018667.4:c.761_764dup, NM_018667.3:c.761_764dup, XR_933371.3:n.1120GGCC[3], XR_933371.2:n.1096GGCC[3], XR_933371.1:n.1093GGCC[3], XM_011523210.3:c.761_764dup, XM_011523210.2:c.761_764dup, XM_011523210.1:c.761_764dup, XM_017023406.2:c.761_764dup, XM_017023406.1:c.761_764dup, XM_011523207.2:c.761_764dup, XM_011523207.1:c.761_764dup, XM_047434338.1:c.761_764dup, XM_047434339.1:c.761_764dup, XM_047434340.1:c.761_764dup, XM_047434337.1:c.761_764dup, XM_047434341.1:c.761_764dup, XM_047434336.1:c.761_764dup, XP_005256089.1:p.Pro256fs, NP_061137.1:p.Pro256fs, XP_011521512.1:p.Pro256fs, XP_016878895.1:p.Pro256fs, XP_011521509.1:p.Pro256fs, XP_047290294.1:p.Pro256fs, XP_047290295.1:p.Pro256fs, XP_047290296.1:p.Pro256fs, XP_047290293.1:p.Pro256fs, XP_047290297.1:p.Pro256fs, XP_047290292.1:p.Pro256fs

Select item 14793417237.

rs1479341723 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:68371692 (GRCh38)
16:68405595 (GRCh37)
Canonical SPDI:: NC_000016.10:68371691:G:A
Gene:: SMPD3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.68371692G>A, NC_000016.9:g.68405595G>A, XM_005256032.4:c.490C>T, XM_005256032.3:c.490C>T, XM_005256032.2:c.490C>T, XM_005256032.1:c.490C>T, NM_018667.4:c.490C>T, NM_018667.3:c.490C>T, XR_933371.3:n.853C>T, XR_933371.2:n.829C>T, XR_933371.1:n.826C>T, XM_011523210.3:c.490C>T, XM_011523210.2:c.490C>T, XM_011523210.1:c.490C>T, XM_017023406.2:c.490C>T, XM_017023406.1:c.490C>T, XM_011523207.2:c.490C>T, XM_011523207.1:c.490C>T, XM_047434338.1:c.490C>T, XM_047434339.1:c.490C>T, XM_047434340.1:c.490C>T, XM_047434337.1:c.490C>T, XM_047434341.1:c.490C>T, XM_047434336.1:c.490C>T, XP_005256089.1:p.Arg164Trp, NP_061137.1:p.Arg164Trp, XP_011521512.1:p.Arg164Trp, XP_016878895.1:p.Arg164Trp, XP_011521509.1:p.Arg164Trp, XP_047290294.1:p.Arg164Trp, XP_047290295.1:p.Arg164Trp, XP_047290296.1:p.Arg164Trp, XP_047290293.1:p.Arg164Trp, XP_047290297.1:p.Arg164Trp, XP_047290292.1:p.Arg164Trp

Select item 14792163478.

rs1479216347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:68371965 (GRCh38)
16:68405868 (GRCh37)
Canonical SPDI:: NC_000016.10:68371964:C:T
Gene:: SMPD3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000016.10:g.68371965C>T, NC_000016.9:g.68405868C>T, XM_005256032.4:c.217G>A, XM_005256032.3:c.217G>A, XM_005256032.2:c.217G>A, XM_005256032.1:c.217G>A, NM_018667.4:c.217G>A, NM_018667.3:c.217G>A, XR_933371.3:n.580G>A, XR_933371.2:n.556G>A, XR_933371.1:n.553G>A, XM_011523210.3:c.217G>A, XM_011523210.2:c.217G>A, XM_011523210.1:c.217G>A, XM_017023406.2:c.217G>A, XM_017023406.1:c.217G>A, XM_011523207.2:c.217G>A, XM_011523207.1:c.217G>A, XM_047434338.1:c.217G>A, XM_047434339.1:c.217G>A, XM_047434340.1:c.217G>A, XM_047434337.1:c.217G>A, XM_047434341.1:c.217G>A, XM_047434336.1:c.217G>A, XP_005256089.1:p.Ala73Thr, NP_061137.1:p.Ala73Thr, XP_011521512.1:p.Ala73Thr, XP_016878895.1:p.Ala73Thr, XP_011521509.1:p.Ala73Thr, XP_047290294.1:p.Ala73Thr, XP_047290295.1:p.Ala73Thr, XP_047290296.1:p.Ala73Thr, XP_047290293.1:p.Ala73Thr, XP_047290297.1:p.Ala73Thr, XP_047290292.1:p.Ala73Thr

Select item 14789472239.

rs1478947223 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:68371731 (GRCh38)
16:68405634 (GRCh37)
Canonical SPDI:: NC_000016.10:68371730:C:A
Gene:: SMPD3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.68371731C>A, NC_000016.9:g.68405634C>A, XM_005256032.4:c.451G>T, XM_005256032.3:c.451G>T, XM_005256032.2:c.451G>T, XM_005256032.1:c.451G>T, NM_018667.4:c.451G>T, NM_018667.3:c.451G>T, XR_933371.3:n.814G>T, XR_933371.2:n.790G>T, XR_933371.1:n.787G>T, XM_011523210.3:c.451G>T, XM_011523210.2:c.451G>T, XM_011523210.1:c.451G>T, XM_017023406.2:c.451G>T, XM_017023406.1:c.451G>T, XM_011523207.2:c.451G>T, XM_011523207.1:c.451G>T, XM_047434338.1:c.451G>T, XM_047434339.1:c.451G>T, XM_047434340.1:c.451G>T, XM_047434337.1:c.451G>T, XM_047434341.1:c.451G>T, XM_047434336.1:c.451G>T, XP_005256089.1:p.Ala151Ser, NP_061137.1:p.Ala151Ser, XP_011521512.1:p.Ala151Ser, XP_016878895.1:p.Ala151Ser, XP_011521509.1:p.Ala151Ser, XP_047290294.1:p.Ala151Ser, XP_047290295.1:p.Ala151Ser, XP_047290296.1:p.Ala151Ser, XP_047290293.1:p.Ala151Ser, XP_047290297.1:p.Ala151Ser, XP_047290292.1:p.Ala151Ser

Select item 147590596010.

rs1475905960 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:68370947 (GRCh38)
16:68404850 (GRCh37)
Canonical SPDI:: NC_000016.10:68370946:C:A,NC_000016.10:68370946:C:T
Gene:: SMPD3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.68370947C>A, NC_000016.10:g.68370947C>T, NC_000016.9:g.68404850C>A, NC_000016.9:g.68404850C>T, XM_005256032.4:c.1235G>T, XM_005256032.4:c.1235G>A, XM_005256032.3:c.1235G>T, XM_005256032.3:c.1235G>A, XM_005256032.2:c.1235G>T, XM_005256032.2:c.1235G>A, XM_005256032.1:c.1235G>T, XM_005256032.1:c.1235G>A, NM_018667.4:c.1235G>T, NM_018667.4:c.1235G>A, NM_018667.3:c.1235G>T, NM_018667.3:c.1235G>A, XR_933371.3:n.1598G>T, XR_933371.3:n.1598G>A, XR_933371.2:n.1574G>T, XR_933371.2:n.1574G>A, XR_933371.1:n.1571G>T, XR_933371.1:n.1571G>A, XM_011523210.3:c.1235G>T, XM_011523210.3:c.1235G>A, XM_011523210.2:c.1235G>T, XM_011523210.2:c.1235G>A, XM_011523210.1:c.1235G>T, XM_011523210.1:c.1235G>A, XM_017023406.2:c.1235G>T, XM_017023406.2:c.1235G>A, XM_017023406.1:c.1235G>T, XM_017023406.1:c.1235G>A, XM_011523207.2:c.1235G>T, XM_011523207.2:c.1235G>A, XM_011523207.1:c.1235G>T, XM_011523207.1:c.1235G>A, XM_047434338.1:c.1235G>T, XM_047434338.1:c.1235G>A, XM_047434339.1:c.1235G>T, XM_047434339.1:c.1235G>A, XM_047434340.1:c.1235G>T, XM_047434340.1:c.1235G>A, XM_047434337.1:c.1235G>T, XM_047434337.1:c.1235G>A, XM_047434341.1:c.1235G>T, XM_047434341.1:c.1235G>A, XM_047434336.1:c.1235G>T, XM_047434336.1:c.1235G>A, XP_005256089.1:p.Arg412Leu, XP_005256089.1:p.Arg412His, NP_061137.1:p.Arg412Leu, NP_061137.1:p.Arg412His, XP_011521512.1:p.Arg412Leu, XP_011521512.1:p.Arg412His, XP_016878895.1:p.Arg412Leu, XP_016878895.1:p.Arg412His, XP_011521509.1:p.Arg412Leu, XP_011521509.1:p.Arg412His, XP_047290294.1:p.Arg412Leu, XP_047290294.1:p.Arg412His, XP_047290295.1:p.Arg412Leu, XP_047290295.1:p.Arg412His, XP_047290296.1:p.Arg412Leu, XP_047290296.1:p.Arg412His, XP_047290293.1:p.Arg412Leu, XP_047290293.1:p.Arg412His, XP_047290297.1:p.Arg412Leu, XP_047290297.1:p.Arg412His, XP_047290292.1:p.Arg412Leu, XP_047290292.1:p.Arg412His

Select item 147495528011.

rs1474955280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:68371693 (GRCh38)
16:68405596 (GRCh37)
Canonical SPDI:: NC_000016.10:68371692:G:A,NC_000016.10:68371692:G:C
Gene:: SMPD3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.68371693G>A, NC_000016.10:g.68371693G>C, NC_000016.9:g.68405596G>A, NC_000016.9:g.68405596G>C, XM_005256032.4:c.489C>T, XM_005256032.4:c.489C>G, XM_005256032.3:c.489C>T, XM_005256032.3:c.489C>G, XM_005256032.2:c.489C>T, XM_005256032.2:c.489C>G, XM_005256032.1:c.489C>T, XM_005256032.1:c.489C>G, NM_018667.4:c.489C>T, NM_018667.4:c.489C>G, NM_018667.3:c.489C>T, NM_018667.3:c.489C>G, XR_933371.3:n.852C>T, XR_933371.3:n.852C>G, XR_933371.2:n.828C>T, XR_933371.2:n.828C>G, XR_933371.1:n.825C>T, XR_933371.1:n.825C>G, XM_011523210.3:c.489C>T, XM_011523210.3:c.489C>G, XM_011523210.2:c.489C>T, XM_011523210.2:c.489C>G, XM_011523210.1:c.489C>T, XM_011523210.1:c.489C>G, XM_017023406.2:c.489C>T, XM_017023406.2:c.489C>G, XM_017023406.1:c.489C>T, XM_017023406.1:c.489C>G, XM_011523207.2:c.489C>T, XM_011523207.2:c.489C>G, XM_011523207.1:c.489C>T, XM_011523207.1:c.489C>G, XM_047434338.1:c.489C>T, XM_047434338.1:c.489C>G, XM_047434339.1:c.489C>T, XM_047434339.1:c.489C>G, XM_047434340.1:c.489C>T, XM_047434340.1:c.489C>G, XM_047434337.1:c.489C>T, XM_047434337.1:c.489C>G, XM_047434341.1:c.489C>T, XM_047434341.1:c.489C>G, XM_047434336.1:c.489C>T, XM_047434336.1:c.489C>G

Select item 147306254912.

rs1473062549 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:68361252 (GRCh38)
16:68395155 (GRCh37)
Canonical SPDI:: NC_000016.10:68361251:G:A
Gene:: PRMT7 (Varview), SMPD3 (Varview)
Functional Consequence:: 500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.00004/1 (TOMMO)
HGVS:: NC_000016.10:g.68361252G>A, NC_000016.9:g.68395155G>A, XM_005256032.4:c.1922C>T, XM_005256032.3:c.1922C>T, XM_005256032.2:c.1922C>T, XM_005256032.1:c.1922C>T, NM_018667.4:c.1922C>T, NM_018667.3:c.1922C>T, XM_017023406.2:c.1922C>T, XM_017023406.1:c.1922C>T, XM_011523207.2:c.1922C>T, XM_011523207.1:c.1922C>T, XM_047434338.1:c.1922C>T, XM_047434339.1:c.1922C>T, XM_047434340.1:c.1922C>T, XM_047434337.1:c.1922C>T, XM_047434341.1:c.1922C>T, XM_047434336.1:c.1922C>T, XP_005256089.1:p.Pro641Leu, NP_061137.1:p.Pro641Leu, XP_016878895.1:p.Pro641Leu, XP_011521509.1:p.Pro641Leu, XP_047290294.1:p.Pro641Leu, XP_047290295.1:p.Pro641Leu, XP_047290296.1:p.Pro641Leu, XP_047290293.1:p.Pro641Leu, XP_047290297.1:p.Pro641Leu, XP_047290292.1:p.Pro641Leu

Select item 147056616413.

rs1470566164 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:68371385 (GRCh38)
16:68405288 (GRCh37)
Canonical SPDI:: NC_000016.10:68371384:T:C
Gene:: SMPD3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.68371385T>C, NC_000016.9:g.68405288T>C, XM_005256032.4:c.797A>G, XM_005256032.3:c.797A>G, XM_005256032.2:c.797A>G, XM_005256032.1:c.797A>G, NM_018667.4:c.797A>G, NM_018667.3:c.797A>G, XR_933371.3:n.1160A>G, XR_933371.2:n.1136A>G, XR_933371.1:n.1133A>G, XM_011523210.3:c.797A>G, XM_011523210.2:c.797A>G, XM_011523210.1:c.797A>G, XM_017023406.2:c.797A>G, XM_017023406.1:c.797A>G, XM_011523207.2:c.797A>G, XM_011523207.1:c.797A>G, XM_047434338.1:c.797A>G, XM_047434339.1:c.797A>G, XM_047434340.1:c.797A>G, XM_047434337.1:c.797A>G, XM_047434341.1:c.797A>G, XM_047434336.1:c.797A>G, XP_005256089.1:p.Gln266Arg, NP_061137.1:p.Gln266Arg, XP_011521512.1:p.Gln266Arg, XP_016878895.1:p.Gln266Arg, XP_011521509.1:p.Gln266Arg, XP_047290294.1:p.Gln266Arg, XP_047290295.1:p.Gln266Arg, XP_047290296.1:p.Gln266Arg, XP_047290293.1:p.Gln266Arg, XP_047290297.1:p.Gln266Arg, XP_047290292.1:p.Gln266Arg

Select item 146995269714.

rs1469952697 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:68361637 (GRCh38)
16:68395540 (GRCh37)
Canonical SPDI:: NC_000016.10:68361636:T:C
Gene:: SMPD3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.68361637T>C, NC_000016.9:g.68395540T>C, XM_005256032.4:c.1832A>G, XM_005256032.3:c.1832A>G, XM_005256032.2:c.1832A>G, XM_005256032.1:c.1832A>G, NM_018667.4:c.1832A>G, NM_018667.3:c.1832A>G, XM_017023406.2:c.1832A>G, XM_017023406.1:c.1832A>G, XM_011523207.2:c.1832A>G, XM_011523207.1:c.1832A>G, XM_047434338.1:c.1832A>G, XM_047434339.1:c.1832A>G, XM_047434340.1:c.1832A>G, XM_047434337.1:c.1832A>G, XM_047434341.1:c.1832A>G, XM_047434336.1:c.1832A>G, XP_005256089.1:p.His611Arg, NP_061137.1:p.His611Arg, XP_016878895.1:p.His611Arg, XP_011521509.1:p.His611Arg, XP_047290294.1:p.His611Arg, XP_047290295.1:p.His611Arg, XP_047290296.1:p.His611Arg, XP_047290293.1:p.His611Arg, XP_047290297.1:p.His611Arg, XP_047290292.1:p.His611Arg

Select item 146836305215.

rs1468363052 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:68372170 (GRCh38)
16:68406073 (GRCh37)
Canonical SPDI:: NC_000016.10:68372169:G:A
Gene:: SMPD3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.68372170G>A, NC_000016.9:g.68406073G>A, XM_005256032.4:c.12C>T, XM_005256032.3:c.12C>T, XM_005256032.2:c.12C>T, XM_005256032.1:c.12C>T, NM_018667.4:c.12C>T, NM_018667.3:c.12C>T, XR_933371.3:n.375C>T, XR_933371.2:n.351C>T, XR_933371.1:n.348C>T, XM_011523210.3:c.12C>T, XM_011523210.2:c.12C>T, XM_011523210.1:c.12C>T, XM_017023406.2:c.12C>T, XM_017023406.1:c.12C>T, XM_011523207.2:c.12C>T, XM_011523207.1:c.12C>T, XM_047434338.1:c.12C>T, XM_047434339.1:c.12C>T, XM_047434340.1:c.12C>T, XM_047434337.1:c.12C>T, XM_047434341.1:c.12C>T, XM_047434336.1:c.12C>T

Select item 146723617316.

rs1467236173 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:68371698 (GRCh38)
16:68405601 (GRCh37)
Canonical SPDI:: NC_000016.10:68371697:C:T
Gene:: SMPD3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000016.10:g.68371698C>T, NC_000016.9:g.68405601C>T, XM_005256032.4:c.484G>A, XM_005256032.3:c.484G>A, XM_005256032.2:c.484G>A, XM_005256032.1:c.484G>A, NM_018667.4:c.484G>A, NM_018667.3:c.484G>A, XR_933371.3:n.847G>A, XR_933371.2:n.823G>A, XR_933371.1:n.820G>A, XM_011523210.3:c.484G>A, XM_011523210.2:c.484G>A, XM_011523210.1:c.484G>A, XM_017023406.2:c.484G>A, XM_017023406.1:c.484G>A, XM_011523207.2:c.484G>A, XM_011523207.1:c.484G>A, XM_047434338.1:c.484G>A, XM_047434339.1:c.484G>A, XM_047434340.1:c.484G>A, XM_047434337.1:c.484G>A, XM_047434341.1:c.484G>A, XM_047434336.1:c.484G>A, XP_005256089.1:p.Ala162Thr, NP_061137.1:p.Ala162Thr, XP_011521512.1:p.Ala162Thr, XP_016878895.1:p.Ala162Thr, XP_011521509.1:p.Ala162Thr, XP_047290294.1:p.Ala162Thr, XP_047290295.1:p.Ala162Thr, XP_047290296.1:p.Ala162Thr, XP_047290293.1:p.Ala162Thr, XP_047290297.1:p.Ala162Thr, XP_047290292.1:p.Ala162Thr

Select item 146376046117.

rs1463760461 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:68370955 (GRCh38)
16:68404858 (GRCh37)
Canonical SPDI:: NC_000016.10:68370954:A:G
Gene:: SMPD3 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000547/1 (Korea1K)
HGVS:: NC_000016.10:g.68370955A>G, NC_000016.9:g.68404858A>G, XM_005256032.4:c.1227T>C, XM_005256032.3:c.1227T>C, XM_005256032.2:c.1227T>C, XM_005256032.1:c.1227T>C, NM_018667.4:c.1227T>C, NM_018667.3:c.1227T>C, XR_933371.3:n.1590T>C, XR_933371.2:n.1566T>C, XR_933371.1:n.1563T>C, XM_011523210.3:c.1227T>C, XM_011523210.2:c.1227T>C, XM_011523210.1:c.1227T>C, XM_017023406.2:c.1227T>C, XM_017023406.1:c.1227T>C, XM_011523207.2:c.1227T>C, XM_011523207.1:c.1227T>C, XM_047434338.1:c.1227T>C, XM_047434339.1:c.1227T>C, XM_047434340.1:c.1227T>C, XM_047434337.1:c.1227T>C, XM_047434341.1:c.1227T>C, XM_047434336.1:c.1227T>C

Select item 146093959318.

rs1460939593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:68371885 (GRCh38)
16:68405788 (GRCh37)
Canonical SPDI:: NC_000016.10:68371884:C:T
Gene:: SMPD3 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000016.10:g.68371885C>T, NC_000016.9:g.68405788C>T, XM_005256032.4:c.297G>A, XM_005256032.3:c.297G>A, XM_005256032.2:c.297G>A, XM_005256032.1:c.297G>A, NM_018667.4:c.297G>A, NM_018667.3:c.297G>A, XR_933371.3:n.660G>A, XR_933371.2:n.636G>A, XR_933371.1:n.633G>A, XM_011523210.3:c.297G>A, XM_011523210.2:c.297G>A, XM_011523210.1:c.297G>A, XM_017023406.2:c.297G>A, XM_017023406.1:c.297G>A, XM_011523207.2:c.297G>A, XM_011523207.1:c.297G>A, XM_047434338.1:c.297G>A, XM_047434339.1:c.297G>A, XM_047434340.1:c.297G>A, XM_047434337.1:c.297G>A, XM_047434341.1:c.297G>A, XM_047434336.1:c.297G>A

Select item 145893426519.

rs1458934265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:68371043 (GRCh38)
16:68404946 (GRCh37)
Canonical SPDI:: NC_000016.10:68371042:C:T
Gene:: SMPD3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.68371043C>T, NC_000016.9:g.68404946C>T, XM_005256032.4:c.1139G>A, XM_005256032.3:c.1139G>A, XM_005256032.2:c.1139G>A, XM_005256032.1:c.1139G>A, NM_018667.4:c.1139G>A, NM_018667.3:c.1139G>A, XR_933371.3:n.1502G>A, XR_933371.2:n.1478G>A, XR_933371.1:n.1475G>A, XM_011523210.3:c.1139G>A, XM_011523210.2:c.1139G>A, XM_011523210.1:c.1139G>A, XM_017023406.2:c.1139G>A, XM_017023406.1:c.1139G>A, XM_011523207.2:c.1139G>A, XM_011523207.1:c.1139G>A, XM_047434338.1:c.1139G>A, XM_047434339.1:c.1139G>A, XM_047434340.1:c.1139G>A, XM_047434337.1:c.1139G>A, XM_047434341.1:c.1139G>A, XM_047434336.1:c.1139G>A, XP_005256089.1:p.Gly380Asp, NP_061137.1:p.Gly380Asp, XP_011521512.1:p.Gly380Asp, XP_016878895.1:p.Gly380Asp, XP_011521509.1:p.Gly380Asp, XP_047290294.1:p.Gly380Asp, XP_047290295.1:p.Gly380Asp, XP_047290296.1:p.Gly380Asp, XP_047290293.1:p.Gly380Asp, XP_047290297.1:p.Gly380Asp, XP_047290292.1:p.Gly380Asp

Select item 145388213620.

rs1453882136 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:68371480 (GRCh38)
16:68405383 (GRCh37)
Canonical SPDI:: NC_000016.10:68371479:G:A
Gene:: SMPD3 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000009/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000016.10:g.68371480G>A, NC_000016.9:g.68405383G>A, XM_005256032.4:c.702C>T, XM_005256032.3:c.702C>T, XM_005256032.2:c.702C>T, XM_005256032.1:c.702C>T, NM_018667.4:c.702C>T, NM_018667.3:c.702C>T, XR_933371.3:n.1065C>T, XR_933371.2:n.1041C>T, XR_933371.1:n.1038C>T, XM_011523210.3:c.702C>T, XM_011523210.2:c.702C>T, XM_011523210.1:c.702C>T, XM_017023406.2:c.702C>T, XM_017023406.1:c.702C>T, XM_011523207.2:c.702C>T, XM_011523207.1:c.702C>T, XM_047434338.1:c.702C>T, XM_047434339.1:c.702C>T, XM_047434340.1:c.702C>T, XM_047434337.1:c.702C>T, XM_047434341.1:c.702C>T, XM_047434336.1:c.702C>T

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