SNP Links for Protein (Select 149274610) - SNP

Links from Protein

Items: 1 to 20 of 509

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Select item 14894588541.

rs1489458854 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:111875809 (GRCh38)
11:111746533 (GRCh37)
Canonical SPDI:: NC_000011.10:111875808:C:G,NC_000011.10:111875808:C:T
Gene:: FDXACB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.111875809C>G, NC_000011.10:g.111875809C>T, NC_000011.9:g.111746533C>G, NC_000011.9:g.111746533C>T, NG_009210.2:g.772G>C, NG_009210.2:g.772G>A, NG_009210.1:g.773G>C, NG_009210.1:g.773G>A, NG_029081.1:g.8649G>C, NG_029081.1:g.8649G>A, NM_138378.3:c.988G>C, NM_138378.3:c.988G>A, NM_138378.2:c.988G>C, NM_138378.2:c.988G>A, NR_038364.2:n.864G>C, NR_038364.2:n.864G>A, NR_038364.1:n.1156G>C, NR_038364.1:n.1156G>A, NW_003871080.1:g.127800C>G, NW_003871080.1:g.127800C>T, NP_612387.1:p.Asp330His, NP_612387.1:p.Asp330Asn

Select item 14833227712.

rs1483322771 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:111875671 (GRCh38)
11:111746395 (GRCh37)
Canonical SPDI:: NC_000011.10:111875670:C:A,NC_000011.10:111875670:C:T
Gene:: FDXACB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.111875671C>A, NC_000011.10:g.111875671C>T, NC_000011.9:g.111746395C>A, NC_000011.9:g.111746395C>T, NG_009210.2:g.910G>T, NG_009210.2:g.910G>A, NG_009210.1:g.911G>T, NG_009210.1:g.911G>A, NG_029081.1:g.8787G>T, NG_029081.1:g.8787G>A, NM_138378.3:c.1126G>T, NM_138378.3:c.1126G>A, NM_138378.2:c.1126G>T, NM_138378.2:c.1126G>A, NR_038364.2:n.1002G>T, NR_038364.2:n.1002G>A, NR_038364.1:n.1294G>T, NR_038364.1:n.1294G>A, NW_003871080.1:g.127662C>A, NW_003871080.1:g.127662C>T, NP_612387.1:p.Val376Phe, NP_612387.1:p.Val376Ile

Select item 14824421303.

rs1482442130 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:111878993 (GRCh38)
11:111749717 (GRCh37)
Canonical SPDI:: NC_000011.10:111878992:G:A
Gene:: C11orf1 (Varview), FDXACB1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.111878993G>A, NC_000011.9:g.111749717G>A, NG_029081.1:g.5465C>T, NM_138378.3:c.140C>T, NM_138378.2:c.140C>T, NR_038364.2:n.173C>T, NR_038364.1:n.465C>T, NW_003871080.1:g.130984G>A, NP_612387.1:p.Ala47Val

Select item 14753594044.

rs1475359404 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:111875365 (GRCh38)
11:111746089 (GRCh37)
Canonical SPDI:: NC_000011.10:111875364:T:C
Gene:: FDXACB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000056/2 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.111875365T>C, NC_000011.9:g.111746089T>C, NG_009210.2:g.1216A>G, NG_009210.1:g.1217A>G, NG_029081.1:g.9093A>G, NM_138378.3:c.1432A>G, NM_138378.2:c.1432A>G, NR_038364.2:n.1308A>G, NR_038364.1:n.1600A>G, NW_003871080.1:g.127356T>C, NP_612387.1:p.Ile478Val

Select item 14709471595.

rs1470947159 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:111875219 (GRCh38)
11:111745943 (GRCh37)
Canonical SPDI:: NC_000011.10:111875218:A:G
Gene:: FDXACB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.111875219A>G, NC_000011.9:g.111745943A>G, NG_009210.2:g.1362T>C, NG_009210.1:g.1363T>C, NG_029081.1:g.9239T>C, NM_138378.3:c.1578T>C, NM_138378.2:c.1578T>C, NR_038364.2:n.1454T>C, NR_038364.1:n.1746T>C, NW_003871080.1:g.127210A>G

Select item 14702190546.

rs1470219054 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:111879098 (GRCh38)
11:111749822 (GRCh37)
Canonical SPDI:: NC_000011.10:111879097:C:G
Gene:: C11orf1 (Varview), FDXACB1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.111879098C>G, NC_000011.9:g.111749822C>G, NG_029081.1:g.5360G>C, NM_138378.3:c.35G>C, NM_138378.2:c.35G>C, NR_038364.2:n.68G>C, NR_038364.1:n.360G>C, NW_003871080.1:g.131089C>G, NP_612387.1:p.Gly12Ala

Select item 14695460517.

rs1469546051 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:111875932 (GRCh38)
11:111746656 (GRCh37)
Canonical SPDI:: NC_000011.10:111875931:A:T
Gene:: FDXACB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000036/5 (GnomAD)
T=0.000045/12 (TOPMED)
HGVS:: NC_000011.10:g.111875932A>T, NC_000011.9:g.111746656A>T, NG_009210.2:g.649T>A, NG_009210.1:g.650T>A, NG_029081.1:g.8526T>A, NM_138378.3:c.865T>A, NM_138378.2:c.865T>A, NR_038364.2:n.741T>A, NR_038364.1:n.1033T>A, NW_003871080.1:g.127923A>T, NP_612387.1:p.Phe289Ile

Select item 14614679748.

rs1461467974 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:111874934 (GRCh38)
11:111745658 (GRCh37)
Canonical SPDI:: NC_000011.10:111874933:A:G
Gene:: FDXACB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.111874934A>G, NC_000011.9:g.111745658A>G, NG_009210.2:g.1647T>C, NG_009210.1:g.1648T>C, NG_029081.1:g.9524T>C, NM_138378.3:c.1863T>C, NM_138378.2:c.1863T>C, NR_038364.2:n.1739T>C, NR_038364.1:n.2031T>C, NW_003871080.1:g.126925A>G

Select item 14596202329.

rs1459620232 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:111879073 (GRCh38)
11:111749797 (GRCh37)
Canonical SPDI:: NC_000011.10:111879072:C:G
Gene:: C11orf1 (Varview), FDXACB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.111879073C>G, NC_000011.9:g.111749797C>G, NG_029081.1:g.5385G>C, NM_138378.3:c.60G>C, NM_138378.2:c.60G>C, NR_038364.2:n.93G>C, NR_038364.1:n.385G>C, NW_003871080.1:g.131064C>G

Select item 145714422510.

rs1457144225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:111878570 (GRCh38)
11:111749294 (GRCh37)
Canonical SPDI:: NC_000011.10:111878569:G:A
Gene:: C11orf1 (Varview), FDXACB1 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.111878570G>A, NC_000011.9:g.111749294G>A, NG_029081.1:g.5888C>T, NM_138378.3:c.315C>T, NM_138378.2:c.315C>T, NW_003871080.1:g.130561G>A

Select item 145071212511.

rs1450712125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:111875479 (GRCh38)
11:111746203 (GRCh37)
Canonical SPDI:: NC_000011.10:111875478:C:A,NC_000011.10:111875478:C:T
Gene:: FDXACB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.111875479C>A, NC_000011.10:g.111875479C>T, NC_000011.9:g.111746203C>A, NC_000011.9:g.111746203C>T, NG_009210.2:g.1102G>T, NG_009210.2:g.1102G>A, NG_009210.1:g.1103G>T, NG_009210.1:g.1103G>A, NG_029081.1:g.8979G>T, NG_029081.1:g.8979G>A, NM_138378.3:c.1318G>T, NM_138378.3:c.1318G>A, NM_138378.2:c.1318G>T, NM_138378.2:c.1318G>A, NR_038364.2:n.1194G>T, NR_038364.2:n.1194G>A, NR_038364.1:n.1486G>T, NR_038364.1:n.1486G>A, NW_003871080.1:g.127470C>A, NW_003871080.1:g.127470C>T, NP_612387.1:p.Val440Phe, NP_612387.1:p.Val440Ile

Select item 144699877312.

rs1446998773 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:111875253 (GRCh38)
11:111745977 (GRCh37)
Canonical SPDI:: NC_000011.10:111875252:A:C,NC_000011.10:111875252:A:G
Gene:: FDXACB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.111875253A>C, NC_000011.10:g.111875253A>G, NC_000011.9:g.111745977A>C, NC_000011.9:g.111745977A>G, NG_009210.2:g.1328T>G, NG_009210.2:g.1328T>C, NG_009210.1:g.1329T>G, NG_009210.1:g.1329T>C, NG_029081.1:g.9205T>G, NG_029081.1:g.9205T>C, NM_138378.3:c.1544T>G, NM_138378.3:c.1544T>C, NM_138378.2:c.1544T>G, NM_138378.2:c.1544T>C, NR_038364.2:n.1420T>G, NR_038364.2:n.1420T>C, NR_038364.1:n.1712T>G, NR_038364.1:n.1712T>C, NW_003871080.1:g.127244A>C, NW_003871080.1:g.127244A>G, NP_612387.1:p.Leu515Arg, NP_612387.1:p.Leu515Pro

Select item 144103765513.

rs1441037655 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:111875548 (GRCh38)
11:111746272 (GRCh37)
Canonical SPDI:: NC_000011.10:111875547:C:A
Gene:: FDXACB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.111875548C>A, NC_000011.9:g.111746272C>A, NG_009210.2:g.1033G>T, NG_009210.1:g.1034G>T, NG_029081.1:g.8910G>T, NM_138378.3:c.1249G>T, NM_138378.2:c.1249G>T, NR_038364.2:n.1125G>T, NR_038364.1:n.1417G>T, NW_003871080.1:g.127539C>A, NP_612387.1:p.Gly417Cys

Select item 143480583514.

rs1434805835 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:111875942 (GRCh38)
11:111746666 (GRCh37)
Canonical SPDI:: NC_000011.10:111875941:C:G
Gene:: FDXACB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.111875942C>G, NC_000011.9:g.111746666C>G, NG_009210.2:g.639G>C, NG_009210.1:g.640G>C, NG_029081.1:g.8516G>C, NM_138378.3:c.855G>C, NM_138378.2:c.855G>C, NR_038364.2:n.731G>C, NR_038364.1:n.1023G>C, NW_003871080.1:g.127933C>G

Select item 142390695515.

rs1423906955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:111875036 (GRCh38)
11:111745760 (GRCh37)
Canonical SPDI:: NC_000011.10:111875035:G:C
Gene:: FDXACB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.111875036G>C, NC_000011.9:g.111745760G>C, NG_009210.2:g.1545C>G, NG_009210.1:g.1546C>G, NG_029081.1:g.9422C>G, NM_138378.3:c.1761C>G, NM_138378.2:c.1761C>G, NR_038364.2:n.1637C>G, NR_038364.1:n.1929C>G, NW_003871080.1:g.127027G>C, NP_612387.1:p.Cys587Trp

Select item 141986350916.

rs1419863509 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:111878989 (GRCh38)
11:111749713 (GRCh37)
Canonical SPDI:: NC_000011.10:111878988:C:G,NC_000011.10:111878988:C:T
Gene:: C11orf1 (Varview), FDXACB1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,2KB_upstream_variant,missense_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.111878989C>G, NC_000011.10:g.111878989C>T, NC_000011.9:g.111749713C>G, NC_000011.9:g.111749713C>T, NG_029081.1:g.5469G>C, NG_029081.1:g.5469G>A, NM_138378.3:c.144G>C, NM_138378.3:c.144G>A, NM_138378.2:c.144G>C, NM_138378.2:c.144G>A, NR_038364.2:n.177G>C, NR_038364.2:n.177G>A, NR_038364.1:n.469G>C, NR_038364.1:n.469G>A, NW_003871080.1:g.130980C>G, NW_003871080.1:g.130980C>T, NP_612387.1:p.Trp48Cys, NP_612387.1:p.Trp48Ter

Select item 141177802617.

rs1411778026 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:111878707 (GRCh38)
11:111749431 (GRCh37)
Canonical SPDI:: NC_000011.10:111878706:C:T
Gene:: C11orf1 (Varview), FDXACB1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.111878707C>T, NC_000011.9:g.111749431C>T, NG_029081.1:g.5751G>A, NM_138378.3:c.178G>A, NM_138378.2:c.178G>A, NW_003871080.1:g.130698C>T, NP_612387.1:p.Asp60Asn

Select item 141078781718.

rs1410787817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:111878977 (GRCh38)
11:111749701 (GRCh37)
Canonical SPDI:: NC_000011.10:111878976:C:T
Gene:: C11orf1 (Varview), FDXACB1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.111878977C>T, NC_000011.9:g.111749701C>T, NG_029081.1:g.5481G>A, NM_138378.3:c.156G>A, NM_138378.2:c.156G>A, NR_038364.2:n.189G>A, NR_038364.1:n.481G>A, NW_003871080.1:g.130968C>T

Select item 140970420519.

rs1409704205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:111875450 (GRCh38)
11:111746174 (GRCh37)
Canonical SPDI:: NC_000011.10:111875449:C:T
Gene:: FDXACB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000023/6 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.111875450C>T, NC_000011.9:g.111746174C>T, NG_009210.2:g.1131G>A, NG_009210.1:g.1132G>A, NG_029081.1:g.9008G>A, NM_138378.3:c.1347G>A, NM_138378.2:c.1347G>A, NR_038364.2:n.1223G>A, NR_038364.1:n.1515G>A, NW_003871080.1:g.127441C>T, NP_612387.1:p.Met449Ile

Select item 140728212920.

rs1407282129 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:111875872 (GRCh38)
11:111746596 (GRCh37)
Canonical SPDI:: NC_000011.10:111875871:G:T
Gene:: FDXACB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.111875872G>T, NC_000011.9:g.111746596G>T, NG_009210.2:g.709C>A, NG_009210.1:g.710C>A, NG_029081.1:g.8586C>A, NM_138378.3:c.925C>A, NM_138378.2:c.925C>A, NR_038364.2:n.801C>A, NR_038364.1:n.1093C>A, NW_003871080.1:g.127863G>T, NP_612387.1:p.Gln309Lys

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