SNP Links for Protein (Select 14150084) - SNP

Links from Protein

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Select item 14844391361.

rs1484439136 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:49425390 (GRCh38)
3:49462823 (GRCh37)
Canonical SPDI:: NC_000003.12:49425389:C:G
Gene:: NICN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49425390C>G, NC_000003.11:g.49462823C>G, NG_033046.1:g.8935G>C, NM_032316.3:c.472G>C, NG_015986.1:g.2289G>C, NP_115692.1:p.Glu158Gln

Select item 14690242052.

rs1469024205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:49426374 (GRCh38)
3:49463807 (GRCh37)
Canonical SPDI:: NC_000003.12:49426373:G:A,NC_000003.12:49426373:G:C
Gene:: NICN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.49426374G>A, NC_000003.12:g.49426374G>C, NC_000003.11:g.49463807G>A, NC_000003.11:g.49463807G>C, NG_033046.1:g.7951C>T, NG_033046.1:g.7951C>G, NM_032316.3:c.187C>T, NM_032316.3:c.187C>G, NG_015986.1:g.1305C>T, NG_015986.1:g.1305C>G, NP_115692.1:p.Arg63Cys, NP_115692.1:p.Arg63Gly

Select item 14663127623.

rs1466312762 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:49426335 (GRCh38)
3:49463768 (GRCh37)
Canonical SPDI:: NC_000003.12:49426334:T:A
Gene:: NICN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49426335T>A, NC_000003.11:g.49463768T>A, NG_033046.1:g.7990A>T, NM_032316.3:c.226A>T, NG_015986.1:g.1344A>T, NP_115692.1:p.Thr76Ser

Select item 14613082404.

rs1461308240 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:49429204 (GRCh38)
3:49466637 (GRCh37)
Canonical SPDI:: NC_000003.12:49429203:G:C
Gene:: NICN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49429204G>C, NC_000003.11:g.49466637G>C, NG_033046.1:g.5121C>G, NM_032316.3:c.36C>G

Select item 14522193135.

rs1452219313 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:49426254 (GRCh38)
3:49463687 (GRCh37)
Canonical SPDI:: NC_000003.12:49426253:G:T
Gene:: NICN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.49426254G>T, NC_000003.11:g.49463687G>T, NG_033046.1:g.8071C>A, NM_032316.3:c.307C>A, NG_015986.1:g.1425C>A, NP_115692.1:p.Gln103Lys

Select item 14514211886.

rs1451421188 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49426295 (GRCh38)
3:49463728 (GRCh37)
Canonical SPDI:: NC_000003.12:49426294:C:T
Gene:: NICN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49426295C>T, NC_000003.11:g.49463728C>T, NG_033046.1:g.8030G>A, NM_032316.3:c.266G>A, NG_015986.1:g.1384G>A, NP_115692.1:p.Ser89Asn

Select item 14506787257.

rs1450678725 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49425426 (GRCh38)
3:49462859 (GRCh37)
Canonical SPDI:: NC_000003.12:49425425:T:C
Gene:: NICN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49425426T>C, NC_000003.11:g.49462859T>C, NG_033046.1:g.8899A>G, NM_032316.3:c.436A>G, NG_015986.1:g.2253A>G, NP_115692.1:p.Thr146Ala

Select item 14488458778.

rs1448845877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49425406 (GRCh38)
3:49462839 (GRCh37)
Canonical SPDI:: NC_000003.12:49425405:G:A
Gene:: NICN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000003.12:g.49425406G>A, NC_000003.11:g.49462839G>A, NG_033046.1:g.8919C>T, NM_032316.3:c.456C>T, NG_015986.1:g.2273C>T

Select item 14423424859.

rs1442342485 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49425397 (GRCh38)
3:49462830 (GRCh37)
Canonical SPDI:: NC_000003.12:49425396:C:T
Gene:: NICN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000003.12:g.49425397C>T, NC_000003.11:g.49462830C>T, NG_033046.1:g.8928G>A, NM_032316.3:c.465G>A, NG_015986.1:g.2282G>A

Select item 143788395510.

rs1437883955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49425960 (GRCh38)
3:49463393 (GRCh37)
Canonical SPDI:: NC_000003.12:49425959:G:A
Gene:: NICN1 (Varview)
Functional Consequence:: 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_000003.12:g.49425960G>A, NC_000003.11:g.49463393G>A, NG_033046.1:g.8365C>T, NM_032316.3:c.346C>T, NG_015986.1:g.1719C>T

Select item 142263270011.

rs1422632700 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49429143 (GRCh38)
3:49466576 (GRCh37)
Canonical SPDI:: NC_000003.12:49429142:T:C
Gene:: NICN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49429143T>C, NC_000003.11:g.49466576T>C, NG_033046.1:g.5182A>G, NM_032316.3:c.97A>G, NP_115692.1:p.Ile33Val

Select item 141935980812.

rs1419359808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49429120 (GRCh38)
3:49466553 (GRCh37)
Canonical SPDI:: NC_000003.12:49429119:G:A
Gene:: NICN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.49429120G>A, NC_000003.11:g.49466553G>A, NG_033046.1:g.5205C>T, NM_032316.3:c.120C>T

Select item 140933452913.

rs1409334529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49425034 (GRCh38)
3:49462467 (GRCh37)
Canonical SPDI:: NC_000003.12:49425033:C:T
Gene:: NICN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49425034C>T, NC_000003.11:g.49462467C>T, NG_033046.1:g.9291G>A, NM_032316.3:c.515G>A, NG_015986.1:g.2645G>A, NP_115692.1:p.Arg172Lys

Select item 140849670114.

rs1408496701 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:49424835 (GRCh38)
3:49462268 (GRCh37)
Canonical SPDI:: NC_000003.12:49424834:A:G
Gene:: NICN1 (Varview)
Functional Consequence:: terminator_codon_variant,stop_lost
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49424835A>G, NC_000003.11:g.49462268A>G, NG_033046.1:g.9490T>C, NM_032316.3:c.640T>C, NG_015986.1:g.2844T>C, NP_115692.1:p.Ter214Arg

Select item 140600365815.

rs1406003658 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49425919 (GRCh38)
3:49463352 (GRCh37)
Canonical SPDI:: NC_000003.12:49425918:T:C
Gene:: NICN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000003.12:g.49425919T>C, NC_000003.11:g.49463352T>C, NG_033046.1:g.8406A>G, NM_032316.3:c.387A>G, NG_015986.1:g.1760A>G

Select item 140179929416.

rs1401799294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49425424 (GRCh38)
3:49462857 (GRCh37)
Canonical SPDI:: NC_000003.12:49425423:G:A
Gene:: NICN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000003.12:g.49425424G>A, NC_000003.11:g.49462857G>A, NG_033046.1:g.8901C>T, NM_032316.3:c.438C>T, NG_015986.1:g.2255C>T

Select item 139464664417.

rs1394646644 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49429207 (GRCh38)
3:49466640 (GRCh37)
Canonical SPDI:: NC_000003.12:49429206:T:C
Gene:: NICN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.49429207T>C, NC_000003.11:g.49466640T>C, NG_033046.1:g.5118A>G, NM_032316.3:c.33A>G

Select item 139108148418.

rs1391081484 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49425906 (GRCh38)
3:49463339 (GRCh37)
Canonical SPDI:: NC_000003.12:49425905:G:A
Gene:: NICN1 (Varview)
Functional Consequence:: stop_gained,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_000003.12:g.49425906G>A, NC_000003.11:g.49463339G>A, NG_033046.1:g.8419C>T, NM_032316.3:c.400C>T, NG_015986.1:g.1773C>T, NP_115692.1:p.Gln134Ter

Select item 139022724319.

rs1390227243 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49425403 (GRCh38)
3:49462836 (GRCh37)
Canonical SPDI:: NC_000003.12:49425402:G:A
Gene:: NICN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49425403G>A, NC_000003.11:g.49462836G>A, NG_033046.1:g.8922C>T, NM_032316.3:c.459C>T, NG_015986.1:g.2276C>T

Select item 138802023320.

rs1388020233 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49424973 (GRCh38)
3:49462406 (GRCh37)
Canonical SPDI:: NC_000003.12:49424972:G:A
Gene:: NICN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49424973G>A, NC_000003.11:g.49462406G>A, NG_033046.1:g.9352C>T, NM_032316.3:c.576C>T, NG_015986.1:g.2706C>T

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