SNP Links for Protein (Select 10863949) - SNP

Links from Protein

Items: 1 to 20 of 368

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Select item 14906585761.

rs1490658576 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:11189802 (GRCh38)
1:11249859 (GRCh37)
Canonical SPDI:: NC_000001.11:11189801:G:A
Gene:: MTOR (Varview), ANGPTL7 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.11189802G>A, NC_000001.10:g.11249859G>A, NG_033239.1:g.77750C>T, NM_021146.4:c.223G>A, NM_021146.3:c.223G>A, XM_017000004.2:c.223G>A, XM_017000004.1:c.223G>A, XM_047424430.1:c.223G>A, NP_066969.1:p.Val75Ile, XP_016855493.1:p.Val75Ile, XP_047280386.1:p.Val75Ile

Select item 14899592952.

rs1489959295 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:11194646 (GRCh38)
1:11254703 (GRCh37)
Canonical SPDI:: NC_000001.11:11194645:A:G
Gene:: MTOR (Varview), ANGPTL7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.11194646A>G, NC_000001.10:g.11254703A>G, NG_033239.1:g.72906T>C, NM_021146.4:c.858A>G, NM_021146.3:c.858A>G

Select item 14853518943.

rs1485351894 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:11189658 (GRCh38)
1:11249715 (GRCh37)
Canonical SPDI:: NC_000001.11:11189657:C:T
Gene:: MTOR (Varview), ANGPTL7 (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.11189658C>T, NC_000001.10:g.11249715C>T, NG_033239.1:g.77894G>A, NM_021146.4:c.79C>T, NM_021146.3:c.79C>T, XM_017000004.2:c.79C>T, XM_017000004.1:c.79C>T, XM_047424430.1:c.79C>T, NP_066969.1:p.Gln27Ter, XP_016855493.1:p.Gln27Ter, XP_047280386.1:p.Gln27Ter

Select item 14849447024.

rs1484944702 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:11189835 (GRCh38)
1:11249892 (GRCh37)
Canonical SPDI:: NC_000001.11:11189834:A:G
Gene:: MTOR (Varview), ANGPTL7 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.11189835A>G, NC_000001.10:g.11249892A>G, NG_033239.1:g.77717T>C, NM_021146.4:c.256A>G, NM_021146.3:c.256A>G, XM_017000004.2:c.256A>G, XM_017000004.1:c.256A>G, XM_047424430.1:c.256A>G, NP_066969.1:p.Ser86Gly, XP_016855493.1:p.Ser86Gly, XP_047280386.1:p.Ser86Gly

Select item 14835054325.

rs1483505432 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:11189699 (GRCh38)
1:11249756 (GRCh37)
Canonical SPDI:: NC_000001.11:11189698:C:A
Gene:: MTOR (Varview), ANGPTL7 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_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_000001.11:g.11189699C>A, NC_000001.10:g.11249756C>A, NG_033239.1:g.77853G>T, NM_021146.4:c.120C>A, NM_021146.3:c.120C>A, XM_017000004.2:c.120C>A, XM_017000004.1:c.120C>A, XM_047424430.1:c.120C>A

Select item 14834102966.

rs1483410296 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:11194467 (GRCh38)
1:11254524 (GRCh37)
Canonical SPDI:: NC_000001.11:11194466:G:C
Gene:: MTOR (Varview), ANGPTL7 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000198/3 (ALFA)
C=0.000021/3 (GnomAD)
C=0.00067/3 (Estonian)
HGVS:: NC_000001.11:g.11194467G>C, NC_000001.10:g.11254524G>C, NG_033239.1:g.73085C>G, NM_021146.4:c.679G>C, NM_021146.3:c.679G>C, NP_066969.1:p.Glu227Gln

Select item 14820276597.

rs1482027659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:11194867 (GRCh38)
1:11254924 (GRCh37)
Canonical SPDI:: NC_000001.11:11194866:C:A,NC_000001.11:11194866:C:T
Gene:: MTOR (Varview), ANGPTL7 (Varview)
Functional Consequence:: stop_gained,downstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.11194867C>A, NC_000001.11:g.11194867C>T, NC_000001.10:g.11254924C>A, NC_000001.10:g.11254924C>T, NG_033239.1:g.72685G>T, NG_033239.1:g.72685G>A, NM_021146.4:c.885C>A, NM_021146.4:c.885C>T, NM_021146.3:c.885C>A, NM_021146.3:c.885C>T, NP_066969.1:p.Tyr295Ter

Select item 14794204708.

rs1479420470 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:11189587 (GRCh38)
1:11249644 (GRCh37)
Canonical SPDI:: NC_000001.11:11189586:A:G
Gene:: MTOR (Varview), ANGPTL7 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.11189587A>G, NC_000001.10:g.11249644A>G, NG_033239.1:g.77965T>C, NM_021146.4:c.8A>G, NM_021146.3:c.8A>G, XM_017000004.2:c.8A>G, XM_017000004.1:c.8A>G, XM_047424430.1:c.8A>G, NP_066969.1:p.Lys3Arg, XP_016855493.1:p.Lys3Arg, XP_047280386.1:p.Lys3Arg

Select item 14738218169.

rs1473821816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:11189857 (GRCh38)
1:11249914 (GRCh37)
Canonical SPDI:: NC_000001.11:11189856:C:T
Gene:: MTOR (Varview), ANGPTL7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000073/3 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.11189857C>T, NC_000001.10:g.11249914C>T, NG_033239.1:g.77695G>A, NM_021146.4:c.278C>T, NM_021146.3:c.278C>T, XM_017000004.2:c.278C>T, XM_017000004.1:c.278C>T, XM_047424430.1:c.278C>T, NP_066969.1:p.Ser93Leu, XP_016855493.1:p.Ser93Leu, XP_047280386.1:p.Ser93Leu

Select item 147219428710.

rs1472194287 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:11192294 (GRCh38)
1:11252351 (GRCh37)
Canonical SPDI:: NC_000001.11:11192293:T:C
Gene:: MTOR (Varview), ANGPTL7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.11192294T>C, NC_000001.10:g.11252351T>C, NG_033239.1:g.75258A>G, NM_021146.4:c.401T>C, NM_021146.3:c.401T>C, XM_017000004.2:c.401T>C, XM_017000004.1:c.401T>C, XM_047424430.1:c.401T>C, NP_066969.1:p.Leu134Pro, XP_016855493.1:p.Leu134Pro, XP_047280386.1:p.Leu134Pro

Select item 146854048011.

rs1468540480 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:11193590 (GRCh38)
1:11253647 (GRCh37)
Canonical SPDI:: NC_000001.11:11193589:A:G
Gene:: MTOR (Varview), ANGPTL7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.11193590A>G, NC_000001.10:g.11253647A>G, NG_033239.1:g.73962T>C, NM_021146.4:c.488A>G, NM_021146.3:c.488A>G, XM_017000004.2:c.488A>G, XM_017000004.1:c.488A>G, XM_047424430.1:c.488A>G, NP_066969.1:p.Asp163Gly, XP_016855493.1:p.Asp163Gly, XP_047280386.1:p.Asp163Gly

Select item 146613543512.

rs1466135435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:11193756 (GRCh38)
1:11253813 (GRCh37)
Canonical SPDI:: NC_000001.11:11193755:G:A
Gene:: MTOR (Varview), ANGPTL7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000001.11:g.11193756G>A, NC_000001.10:g.11253813G>A, NG_033239.1:g.73796C>T, NM_021146.4:c.654G>A, NM_021146.3:c.654G>A, XM_017000004.2:c.654G>A, XM_017000004.1:c.654G>A, XM_047424430.1:c.654G>A

Select item 146567800213.

rs1465678002 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:11192329 (GRCh38)
1:11252386 (GRCh37)
Canonical SPDI:: NC_000001.11:11192328:A:C
Gene:: MTOR (Varview), ANGPTL7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.11192329A>C, NC_000001.10:g.11252386A>C, NG_033239.1:g.75223T>G, NM_021146.4:c.436A>C, NM_021146.3:c.436A>C, XM_017000004.2:c.436A>C, XM_017000004.1:c.436A>C, XM_047424430.1:c.436A>C, NP_066969.1:p.Lys146Gln, XP_016855493.1:p.Lys146Gln, XP_047280386.1:p.Lys146Gln

Select item 145930820814.

rs1459308208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:11189800 (GRCh38)
1:11249857 (GRCh37)
Canonical SPDI:: NC_000001.11:11189799:G:A
Gene:: MTOR (Varview), ANGPTL7 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.11189800G>A, NC_000001.10:g.11249857G>A, NG_033239.1:g.77752C>T, NM_021146.4:c.221G>A, NM_021146.3:c.221G>A, XM_017000004.2:c.221G>A, XM_017000004.1:c.221G>A, XM_047424430.1:c.221G>A, NP_066969.1:p.Trp74Ter, XP_016855493.1:p.Trp74Ter, XP_047280386.1:p.Trp74Ter

Select item 145431473515.

rs1454314735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:11194921 (GRCh38)
1:11254978 (GRCh37)
Canonical SPDI:: NC_000001.11:11194920:C:A
Gene:: MTOR (Varview), ANGPTL7 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.11194921C>A, NC_000001.10:g.11254978C>A, NG_033239.1:g.72631G>T, NM_021146.4:c.939C>A, NM_021146.3:c.939C>A, NP_066969.1:p.His313Gln

Select item 145288555116.

rs1452885551 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:11194996 (GRCh38)
1:11255053 (GRCh37)
Canonical SPDI:: NC_000001.11:11194995:A:T
Gene:: MTOR (Varview), ANGPTL7 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.11194996A>T, NC_000001.10:g.11255053A>T, NG_033239.1:g.72556T>A, NM_021146.4:c.1014A>T, NM_021146.3:c.1014A>T, NP_066969.1:p.Lys338Asn

Select item 145234781017.

rs1452347810 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:11189918 (GRCh38)
1:11249975 (GRCh37)
Canonical SPDI:: NC_000001.11:11189917:G:T
Gene:: MTOR (Varview), ANGPTL7 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.11189918G>T, NC_000001.10:g.11249975G>T, NG_033239.1:g.77634C>A, NM_021146.4:c.339G>T, NM_021146.3:c.339G>T, XM_017000004.2:c.339G>T, XM_017000004.1:c.339G>T, XM_047424430.1:c.339G>T, NP_066969.1:p.Gln113His, XP_016855493.1:p.Gln113His, XP_047280386.1:p.Gln113His

Select item 144990850618.

rs1449908506 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:11194512 (GRCh38)
1:11254569 (GRCh37)
Canonical SPDI:: NC_000001.11:11194511:A:G
Gene:: MTOR (Varview), ANGPTL7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.11194512A>G, NC_000001.10:g.11254569A>G, NG_033239.1:g.73040T>C, NM_021146.4:c.724A>G, NM_021146.3:c.724A>G, NP_066969.1:p.Asn242Asp

Select item 144962966119.

rs1449629661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:11192291 (GRCh38)
1:11252348 (GRCh37)
Canonical SPDI:: NC_000001.11:11192290:C:G
Gene:: MTOR (Varview), ANGPTL7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.11192291C>G, NC_000001.10:g.11252348C>G, NG_033239.1:g.75261G>C, NM_021146.4:c.398C>G, NM_021146.3:c.398C>G, XM_017000004.2:c.398C>G, XM_017000004.1:c.398C>G, XM_047424430.1:c.398C>G, NP_066969.1:p.Ser133Cys, XP_016855493.1:p.Ser133Cys, XP_047280386.1:p.Ser133Cys

Select item 144778055120.

rs1447780551 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:11194970 (GRCh38)
1:11255027 (GRCh37)
Canonical SPDI:: NC_000001.11:11194969:T:C,NC_000001.11:11194969:T:G
Gene:: MTOR (Varview), ANGPTL7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.11194970T>C, NC_000001.11:g.11194970T>G, NC_000001.10:g.11255027T>C, NC_000001.10:g.11255027T>G, NG_033239.1:g.72582A>G, NG_033239.1:g.72582A>C, NM_021146.4:c.988T>C, NM_021146.4:c.988T>G, NM_021146.3:c.988T>C, NM_021146.3:c.988T>G, NP_066969.1:p.Tyr330His, NP_066969.1:p.Tyr330Asp

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