SNP Links for Protein (Select 4885233) - SNP

Links from Protein

Items: 1 to 20 of 220

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Select item 14719117941.

rs1471911794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:69818739 (GRCh38)
11:69633507 (GRCh37)
Canonical SPDI:: NC_000011.10:69818738:G:C
Gene:: FGF3 (Varview), LOC107984368 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.69818739G>C, NC_000011.9:g.69633507G>C, NG_009016.1:g.5686C>G, NM_005247.4:c.195C>G, NM_005247.3:c.195C>G, NM_005247.2:c.195C>G, NG_052068.1:g.1300G>C, NW_003571046.1:g.18722G>C, XR_001748071.2:n.32G>C, NP_005238.1:p.Asn65Lys

Select item 14631727022.

rs1463172702 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:69818911 (GRCh38)
11:69633679 (GRCh37)
Canonical SPDI:: NC_000011.10:69818910:A:G
Gene:: FGF3 (Varview), LOC107984368 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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.69818911A>G, NC_000011.9:g.69633679A>G, NG_009016.1:g.5514T>C, NM_005247.4:c.23T>C, NM_005247.3:c.23T>C, NM_005247.2:c.23T>C, NG_052068.1:g.1472A>G, NW_003571046.1:g.18894A>G, XR_001748071.2:n.204A>G, NP_005238.1:p.Leu8Pro

Select item 14623255503.

rs1462325550 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:69810652 (GRCh38)
11:69625420 (GRCh37)
Canonical SPDI:: NC_000011.10:69810651:C:T
Gene:: FGF3 (Varview)
Functional Consequence:: coding_sequence_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_000011.10:g.69810652C>T, NC_000011.9:g.69625420C>T, NG_009016.1:g.13773G>A, NM_005247.4:c.373G>A, NM_005247.3:c.373G>A, NM_005247.2:c.373G>A, NW_003571046.1:g.10635C>T, NP_005238.1:p.Gly125Ser

Select item 14508181444.

rs1450818144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:69818864 (GRCh38)
11:69633632 (GRCh37)
Canonical SPDI:: NC_000011.10:69818863:G:A
Gene:: FGF3 (Varview), LOC107984368 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.69818864G>A, NC_000011.9:g.69633632G>A, NG_009016.1:g.5561C>T, NM_005247.4:c.70C>T, NM_005247.3:c.70C>T, NM_005247.2:c.70C>T, NG_052068.1:g.1425G>A, NW_003571046.1:g.18847G>A, XR_001748071.2:n.157G>A, NP_005238.1:p.Arg24Trp

Select item 14503918725.

rs1450391872 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:69816382 (GRCh38)
11:69631150 (GRCh37)
Canonical SPDI:: NC_000011.10:69816381:T:A
Gene:: FGF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.69816382T>A, NC_000011.9:g.69631150T>A, NG_009016.1:g.8043A>T, NM_005247.4:c.262A>T, NM_005247.3:c.262A>T, NM_005247.2:c.262A>T, NW_003571046.1:g.16365T>A, NP_005238.1:p.Ile88Phe

Select item 14425795366.

rs1442579536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:69810637 (GRCh38)
11:69625405 (GRCh37)
Canonical SPDI:: NC_000011.10:69810636:C:T
Gene:: FGF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.69810637C>T, NC_000011.9:g.69625405C>T, NG_009016.1:g.13788G>A, NM_005247.4:c.388G>A, NM_005247.3:c.388G>A, NM_005247.2:c.388G>A, NW_003571046.1:g.10620C>T, NP_005238.1:p.Ala130Thr

Select item 14405862507.

rs1440586250 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:69810529 (GRCh38)
11:69625297 (GRCh37)
Canonical SPDI:: NC_000011.10:69810528:C:T
Gene:: FGF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000011.10:g.69810529C>T, NC_000011.9:g.69625297C>T, NG_009016.1:g.13896G>A, NM_005247.4:c.496G>A, NM_005247.3:c.496G>A, NM_005247.2:c.496G>A, NW_003571046.1:g.10512C>T, NP_005238.1:p.Gly166Ser

Select item 14348109658.

rs1434810965 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 11:69818889 (GRCh38)
11:69633657 (GRCh37)
Canonical SPDI:: NC_000011.10:69818888:G:
Gene:: FGF3 (Varview), LOC107984368 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000012/1 (GnomAD_exomes)
-=0.00003/8 (TOPMED)
HGVS:: NC_000011.10:g.69818889del, NC_000011.9:g.69633657del, NG_009016.1:g.5536del, NM_005247.4:c.45del, NM_005247.3:c.45del, NM_005247.2:c.45del, NG_052068.1:g.1450del, NW_003571046.1:g.18872del, XR_001748071.2:n.182del, NP_005238.1:p.Trp16fs

Select item 14305868119.

rs1430586811 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:69818831 (GRCh38)
11:69633599 (GRCh37)
Canonical SPDI:: NC_000011.10:69818830:C:A,NC_000011.10:69818830:C:T
Gene:: FGF3 (Varview), LOC107984368 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00007/6 (GnomAD_exomes)
HGVS:: NC_000011.10:g.69818831C>A, NC_000011.10:g.69818831C>T, NC_000011.9:g.69633599C>A, NC_000011.9:g.69633599C>T, NG_009016.1:g.5594G>T, NG_009016.1:g.5594G>A, NM_005247.4:c.103G>T, NM_005247.4:c.103G>A, NM_005247.3:c.103G>T, NM_005247.3:c.103G>A, NM_005247.2:c.103G>T, NM_005247.2:c.103G>A, NG_052068.1:g.1392C>A, NG_052068.1:g.1392C>T, NW_003571046.1:g.18814C>A, NW_003571046.1:g.18814C>T, XR_001748071.2:n.124C>A, XR_001748071.2:n.124C>T, NP_005238.1:p.Val35Phe, NP_005238.1:p.Val35Ile

Select item 142452467910.

rs1424524679 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 11:69810371 (GRCh38)
11:69625139 (GRCh37)
Canonical SPDI:: NC_000011.10:69810370:A:C,NC_000011.10:69810370:A:G,NC_000011.10:69810370:A:T
Gene:: FGF3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.69810371A>C, NC_000011.10:g.69810371A>G, NC_000011.10:g.69810371A>T, NC_000011.9:g.69625139A>C, NC_000011.9:g.69625139A>G, NC_000011.9:g.69625139A>T, NG_009016.1:g.14054T>G, NG_009016.1:g.14054T>C, NG_009016.1:g.14054T>A, NM_005247.4:c.654T>G, NM_005247.4:c.654T>C, NM_005247.4:c.654T>A, NM_005247.3:c.654T>G, NM_005247.3:c.654T>C, NM_005247.3:c.654T>A, NM_005247.2:c.654T>G, NM_005247.2:c.654T>C, NM_005247.2:c.654T>A, NW_003571046.1:g.10354A>C, NW_003571046.1:g.10354A>G, NW_003571046.1:g.10354A>T, NP_005238.1:p.Asp218Glu, NP_005238.1:p.Asp218Glu

Select item 141952444811.

rs1419524448 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:69818720 (GRCh38)
11:69633488 (GRCh37)
Canonical SPDI:: NC_000011.10:69818719:C:T
Gene:: FGF3 (Varview), LOC107984368 (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=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000021/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.69818720C>T, NC_000011.9:g.69633488C>T, NG_009016.1:g.5705G>A, NM_005247.4:c.214G>A, NM_005247.3:c.214G>A, NM_005247.2:c.214G>A, NG_052068.1:g.1281C>T, NW_003571046.1:g.18703C>T, XR_001748071.2:n.13C>T, NP_005238.1:p.Ala72Thr

Select item 141749013212.

rs1417490132 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:69818844 (GRCh38)
11:69633612 (GRCh37)
Canonical SPDI:: NC_000011.10:69818843:G:A,NC_000011.10:69818843:G:T
Gene:: FGF3 (Varview), LOC107984368 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.69818844G>A, NC_000011.10:g.69818844G>T, NC_000011.9:g.69633612G>A, NC_000011.9:g.69633612G>T, NG_009016.1:g.5581C>T, NG_009016.1:g.5581C>A, NM_005247.4:c.90C>T, NM_005247.4:c.90C>A, NM_005247.3:c.90C>T, NM_005247.3:c.90C>A, NM_005247.2:c.90C>T, NM_005247.2:c.90C>A, NG_052068.1:g.1405G>A, NG_052068.1:g.1405G>T, NW_003571046.1:g.18827G>A, NW_003571046.1:g.18827G>T, XR_001748071.2:n.137G>A, XR_001748071.2:n.137G>T

Select item 141616466513.

rs1416164665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:69818808 (GRCh38)
11:69633576 (GRCh37)
Canonical SPDI:: NC_000011.10:69818807:C:A,NC_000011.10:69818807:C:T
Gene:: FGF3 (Varview), LOC107984368 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.69818808C>A, NC_000011.10:g.69818808C>T, NC_000011.9:g.69633576C>A, NC_000011.9:g.69633576C>T, NG_009016.1:g.5617G>T, NG_009016.1:g.5617G>A, NM_005247.4:c.126G>T, NM_005247.4:c.126G>A, NM_005247.3:c.126G>T, NM_005247.3:c.126G>A, NM_005247.2:c.126G>T, NM_005247.2:c.126G>A, NG_052068.1:g.1369C>A, NG_052068.1:g.1369C>T, NW_003571046.1:g.18791C>A, NW_003571046.1:g.18791C>T, XR_001748071.2:n.101C>A, XR_001748071.2:n.101C>T

Select item 140915145414.

rs1409151454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:69818721 (GRCh38)
11:69633489 (GRCh37)
Canonical SPDI:: NC_000011.10:69818720:G:A,NC_000011.10:69818720:G:T
Gene:: FGF3 (Varview), LOC107984368 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.69818721G>A, NC_000011.10:g.69818721G>T, NC_000011.9:g.69633489G>A, NC_000011.9:g.69633489G>T, NG_009016.1:g.5704C>T, NG_009016.1:g.5704C>A, NM_005247.4:c.213C>T, NM_005247.4:c.213C>A, NM_005247.3:c.213C>T, NM_005247.3:c.213C>A, NM_005247.2:c.213C>T, NM_005247.2:c.213C>A, NG_052068.1:g.1282G>A, NG_052068.1:g.1282G>T, NW_003571046.1:g.18704G>A, NW_003571046.1:g.18704G>T, XR_001748071.2:n.14G>A, XR_001748071.2:n.14G>T, NP_005238.1:p.Ser71Arg

Select item 140869539515.

rs1408695395 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:69810630 (GRCh38)
11:69625398 (GRCh37)
Canonical SPDI:: NC_000011.10:69810629:C:T
Gene:: FGF3 (Varview)
Functional Consequence:: coding_sequence_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_000011.10:g.69810630C>T, NC_000011.9:g.69625398C>T, NG_009016.1:g.13795G>A, NM_005247.4:c.395G>A, NM_005247.3:c.395G>A, NM_005247.2:c.395G>A, NW_003571046.1:g.10613C>T, NP_005238.1:p.Arg132Gln

Select item 140839120916.

rs1408391209 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:69810625 (GRCh38)
11:69625393 (GRCh37)
Canonical SPDI:: NC_000011.10:69810624:A:G
Gene:: FGF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.69810625A>G, NC_000011.9:g.69625393A>G, NG_009016.1:g.13800T>C, NM_005247.4:c.400T>C, NM_005247.3:c.400T>C, NM_005247.2:c.400T>C, NW_003571046.1:g.10608A>G, NP_005238.1:p.Tyr134His

Select item 140502153617.

rs1405021536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:69810423 (GRCh38)
11:69625191 (GRCh37)
Canonical SPDI:: NC_000011.10:69810422:G:A
Gene:: FGF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.69810423G>A, NC_000011.9:g.69625191G>A, NG_009016.1:g.14002C>T, NM_005247.4:c.602C>T, NM_005247.3:c.602C>T, NM_005247.2:c.602C>T, NW_003571046.1:g.10406G>A, NP_005238.1:p.Pro201Leu

Select item 140018360118.

rs1400183601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:69810629 (GRCh38)
11:69625397 (GRCh37)
Canonical SPDI:: NC_000011.10:69810628:C:G,NC_000011.10:69810628:C:T
Gene:: FGF3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000011.10:g.69810629C>G, NC_000011.10:g.69810629C>T, NC_000011.9:g.69625397C>G, NC_000011.9:g.69625397C>T, NG_009016.1:g.13796G>C, NG_009016.1:g.13796G>A, NM_005247.4:c.396G>C, NM_005247.4:c.396G>A, NM_005247.3:c.396G>C, NM_005247.3:c.396G>A, NM_005247.2:c.396G>C, NM_005247.2:c.396G>A, NW_003571046.1:g.10612C>G, NW_003571046.1:g.10612C>T

Select item 139820728419.

rs1398207284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:69818916 (GRCh38)
11:69633684 (GRCh37)
Canonical SPDI:: NC_000011.10:69818915:C:A
Gene:: FGF3 (Varview), LOC107984368 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.69818916C>A, NC_000011.9:g.69633684C>A, NG_009016.1:g.5509G>T, NM_005247.4:c.18G>T, NM_005247.3:c.18G>T, NM_005247.2:c.18G>T, NG_052068.1:g.1477C>A, NW_003571046.1:g.18899C>A, XR_001748071.2:n.209C>A

Select item 139417099920.

rs1394170999 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:69818889 (GRCh38)
11:69633657 (GRCh37)
Canonical SPDI:: NC_000011.10:69818888:G:A,NC_000011.10:69818888:G:C
Gene:: FGF3 (Varview), LOC107984368 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.69818889G>A, NC_000011.10:g.69818889G>C, NC_000011.9:g.69633657G>A, NC_000011.9:g.69633657G>C, NG_009016.1:g.5536C>T, NG_009016.1:g.5536C>G, NM_005247.4:c.45C>T, NM_005247.4:c.45C>G, NM_005247.3:c.45C>T, NM_005247.3:c.45C>G, NM_005247.2:c.45C>T, NM_005247.2:c.45C>G, NG_052068.1:g.1450G>A, NG_052068.1:g.1450G>C, NW_003571046.1:g.18872G>A, NW_003571046.1:g.18872G>C, XR_001748071.2:n.182G>A, XR_001748071.2:n.182G>C

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