SNP Links for Protein (Select 11545906) - SNP

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Links from Protein

Items: 1 to 20 of 361

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Select item 14834682311.

rs1483468231 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 17:82750724 (GRCh38)
17:80708600 (GRCh37)
Canonical SPDI:: NC_000017.11:82750723:CC:C
Gene:: TBCD (Varview), FN3K (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,frameshift_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82750725del, NC_000017.10:g.80708601del, NG_011721.1:g.3662del, NM_022158.4:c.900del, NM_022158.3:c.900del, NP_071441.1:p.Leu301fs

Select item 14783183522.

rs1478318352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82735642 (GRCh38)
17:80693518 (GRCh37)
Canonical SPDI:: NC_000017.11:82735641:G:A
Gene:: FN3K (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.82735642G>A, NC_000017.10:g.80693518G>A, NM_022158.4:c.6G>A, NM_022158.3:c.6G>A

Select item 14775689633.

rs1477568963 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:82740780 (GRCh38)
17:80698656 (GRCh37)
Canonical SPDI:: NC_000017.11:82740779:G:T
Gene:: FN3K (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82740780G>T, NC_000017.10:g.80698656G>T, NM_022158.4:c.311G>T, NM_022158.3:c.311G>T, NP_071441.1:p.Gly104Val

Select item 14772620414.

rs1477262041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:82735744 (GRCh38)
17:80693620 (GRCh37)
Canonical SPDI:: NC_000017.11:82735743:C:G,NC_000017.11:82735743:C:T
Gene:: FN3K (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
T=0.000212/4 (TOMMO)
HGVS:: NC_000017.11:g.82735744C>G, NC_000017.11:g.82735744C>T, NC_000017.10:g.80693620C>G, NC_000017.10:g.80693620C>T, NM_022158.4:c.108C>G, NM_022158.4:c.108C>T, NM_022158.3:c.108C>G, NM_022158.3:c.108C>T

Select item 14762802965.

rs1476280296 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:82741392 (GRCh38)
17:80699268 (GRCh37)
Canonical SPDI:: NC_000017.11:82741391:A:G
Gene:: FN3K (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.82741392A>G, NC_000017.10:g.80699268A>G, NM_022158.4:c.467A>G, NM_022158.3:c.467A>G, NP_071441.1:p.Gln156Arg

Select item 14757675466.

rs1475767546 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:82741363 (GRCh38)
17:80699239 (GRCh37)
Canonical SPDI:: NC_000017.11:82741362:C:T
Gene:: FN3K (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82741363C>T, NC_000017.10:g.80699239C>T, NM_022158.4:c.438C>T, NM_022158.3:c.438C>T

Select item 14748111557.

rs1474811155 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:82748884 (GRCh38)
17:80706760 (GRCh37)
Canonical SPDI:: NC_000017.11:82748883:C:A
Gene:: FN3K (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.82748884C>A, NC_000017.10:g.80706760C>A, NG_011721.1:g.1821C>A, NM_022158.4:c.498C>A, NM_022158.3:c.498C>A

Select item 14716108978.

rs1471610897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:82735694 (GRCh38)
17:80693570 (GRCh37)
Canonical SPDI:: NC_000017.11:82735693:C:T
Gene:: FN3K (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.82735694C>T, NC_000017.10:g.80693570C>T, NM_022158.4:c.58C>T, NM_022158.3:c.58C>T, NP_071441.1:p.Pro20Ser

Select item 14699681109.

rs1469968110 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTC>- [Show Flanks]
Chromosome:: 17:82750536 (GRCh38)
17:80708412 (GRCh37)
Canonical SPDI:: NC_000017.11:82750531:CTTCCTTC:CTTC
Gene:: TBCD (Varview), FN3K (Varview)
Functional Consequence:: frameshift_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTCCTTC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.82750532CTTC[1], NC_000017.10:g.80708408CTTC[1], NG_011721.1:g.3469CTTC[1], NM_022158.4:c.711_714del, NM_022158.3:c.711_714del, NP_071441.1:p.Phe238fs

Select item 146921454210.

rs1469214542 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:82738553 (GRCh38)
17:80696429 (GRCh37)
Canonical SPDI:: NC_000017.11:82738552:GGG:GG
Gene:: FN3K (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.82738555del, NC_000017.10:g.80696431del, NM_022158.4:c.208del, NM_022158.3:c.208del, NP_071441.1:p.Val70fs

Select item 146749927711.

rs1467499277 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:82735758 (GRCh38)
17:80693634 (GRCh37)
Canonical SPDI:: NC_000017.11:82735757:A:G,NC_000017.11:82735757:A:T
Gene:: FN3K (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82735758A>G, NC_000017.11:g.82735758A>T, NC_000017.10:g.80693634A>G, NC_000017.10:g.80693634A>T, NM_022158.4:c.122A>G, NM_022158.4:c.122A>T, NM_022158.3:c.122A>G, NM_022158.3:c.122A>T, NP_071441.1:p.Lys41Arg, NP_071441.1:p.Lys41Ile

Select item 146477465912.

rs1464774659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:82750608 (GRCh38)
17:80708484 (GRCh37)
Canonical SPDI:: NC_000017.11:82750607:C:T
Gene:: TBCD (Varview), FN3K (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000017.11:g.82750608C>T, NC_000017.10:g.80708484C>T, NG_011721.1:g.3545C>T, NM_022158.4:c.783C>T, NM_022158.3:c.783C>T

Select item 146385213013.

rs1463852130 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:82738596 (GRCh38)
17:80696472 (GRCh37)
Canonical SPDI:: NC_000017.11:82738595:G:A,NC_000017.11:82738595:G:C
Gene:: FN3K (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.82738596G>A, NC_000017.11:g.82738596G>C, NC_000017.10:g.80696472G>A, NC_000017.10:g.80696472G>C, NM_022158.4:c.249G>A, NM_022158.4:c.249G>C, NM_022158.3:c.249G>A, NM_022158.3:c.249G>C

Select item 145900549914.

rs1459005499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82735688 (GRCh38)
17:80693564 (GRCh37)
Canonical SPDI:: NC_000017.11:82735687:G:A
Gene:: FN3K (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.82735688G>A, NC_000017.10:g.80693564G>A, NM_022158.4:c.52G>A, NM_022158.3:c.52G>A, NP_071441.1:p.Gly18Ser

Select item 145775995615.

rs1457759956 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:82750558 (GRCh38)
17:80708434 (GRCh37)
Canonical SPDI:: NC_000017.11:82750557:G:C
Gene:: TBCD (Varview), FN3K (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.82750558G>C, NC_000017.10:g.80708434G>C, NG_011721.1:g.3495G>C, NM_022158.4:c.733G>C, NM_022158.3:c.733G>C, NP_071441.1:p.Glu245Gln

Select item 145754588316.

rs1457545883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:82750618 (GRCh38)
17:80708494 (GRCh37)
Canonical SPDI:: NC_000017.11:82750617:C:G,NC_000017.11:82750617:C:T
Gene:: TBCD (Varview), FN3K (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.82750618C>G, NC_000017.11:g.82750618C>T, NC_000017.10:g.80708494C>G, NC_000017.10:g.80708494C>T, NG_011721.1:g.3555C>G, NG_011721.1:g.3555C>T, NM_022158.4:c.793C>G, NM_022158.4:c.793C>T, NM_022158.3:c.793C>G, NM_022158.3:c.793C>T, NP_071441.1:p.Arg265Gly, NP_071441.1:p.Arg265Trp

Select item 145444271617.

rs1454442716 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:82738489 (GRCh38)
17:80696365 (GRCh37)
Canonical SPDI:: NC_000017.11:82738488:G:T
Gene:: FN3K (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82738489G>T, NC_000017.10:g.80696365G>T, NM_022158.4:c.142G>T, NM_022158.3:c.142G>T, NP_071441.1:p.Ala48Ser

Select item 145433001718.

rs1454330017 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82748957 (GRCh38)
17:80706833 (GRCh37)
Canonical SPDI:: NC_000017.11:82748956:G:A
Gene:: FN3K (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82748957G>A, NC_000017.10:g.80706833G>A, NG_011721.1:g.1894G>A, NM_022158.4:c.571G>A, NM_022158.3:c.571G>A, NP_071441.1:p.Glu191Lys

Select item 145264902319.

rs1452649023 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:82750525 (GRCh38)
17:80708401 (GRCh37)
Canonical SPDI:: NC_000017.11:82750524:G:C,NC_000017.11:82750524:G:T
Gene:: TBCD (Varview), FN3K (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82750525G>C, NC_000017.11:g.82750525G>T, NC_000017.10:g.80708401G>C, NC_000017.10:g.80708401G>T, NG_011721.1:g.3462G>C, NG_011721.1:g.3462G>T, NM_022158.4:c.700G>C, NM_022158.4:c.700G>T, NM_022158.3:c.700G>C, NM_022158.3:c.700G>T, NP_071441.1:p.Asp234His, NP_071441.1:p.Asp234Tyr

Select item 145202515420.

rs1452025154 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:82735684 (GRCh38)
17:80693560 (GRCh37)
Canonical SPDI:: NC_000017.11:82735683:C:G,NC_000017.11:82735683:C:T
Gene:: FN3K (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
T=0.00003/4 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82735684C>G, NC_000017.11:g.82735684C>T, NC_000017.10:g.80693560C>G, NC_000017.10:g.80693560C>T, NM_022158.4:c.48C>G, NM_022158.4:c.48C>T, NM_022158.3:c.48C>G, NM_022158.3:c.48C>T

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