SNP Links for Nucleotide (Select 379030636) - SNP

Links from Nucleotide

Items: 1 to 20 of 543

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Select item 14906498641.

rs1490649864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:7337636 (GRCh38)
8:7195158 (GRCh37)
Canonical SPDI:: NC_000008.11:7337635:G:A
Gene:: USP17L4 (Varview), FAM66B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.00002/1 (GnomAD)
A=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7337636G>A, NC_000008.10:g.7195158G>A, NW_018654717.1:g.5571175C>T, NM_001256874.1:c.522G>A, NM_001256869.2:c.522G>A, NM_001256869.1:c.522G>A

Select item 14896384652.

rs1489638465 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:7337990 (GRCh38)
8:7195512 (GRCh37)
Canonical SPDI:: NC_000008.11:7337989:C:A,NC_000008.11:7337989:C:T
Gene:: USP17L4 (Varview), FAM66B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000008.11:g.7337990C>A, NC_000008.11:g.7337990C>T, NC_000008.10:g.7195512C>A, NC_000008.10:g.7195512C>T, NW_018654717.1:g.5570821G>T, NW_018654717.1:g.5570821G>A, NM_001256874.1:c.876C>A, NM_001256874.1:c.876C>T, NM_001256869.2:c.876C>A, NM_001256869.2:c.876C>T, NM_001256869.1:c.876C>A, NM_001256869.1:c.876C>T

Select item 14895457353.

rs1489545735 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:7338328 (GRCh38)
8:7195850 (GRCh37)
Canonical SPDI:: NC_000008.11:7338327:A:C
Gene:: USP17L4 (Varview), FAM66B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.00003/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7338328A>C, NC_000008.10:g.7195850A>C, NW_018654717.1:g.5570483T>G, NM_001256874.1:c.1214A>C, NM_001256869.2:c.1214A>C, NM_001256869.1:c.1214A>C, NP_001243803.1:p.Gln405Pro

Select item 14894539794.

rs1489453979 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:7337547 (GRCh38)
8:7195069 (GRCh37)
Canonical SPDI:: NC_000008.11:7337546:C:G
Gene:: USP17L4 (Varview), FAM66B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7337547C>G, NC_000008.10:g.7195069C>G, NW_018654717.1:g.5571264G>C, NM_001256874.1:c.433C>G, NM_001256869.2:c.433C>G, NM_001256869.1:c.433C>G, NP_001243803.1:p.Pro145Ala

Select item 14885577075.

rs1488557707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:7338644 (GRCh38)
8:7196166 (GRCh37)
Canonical SPDI:: NC_000008.11:7338643:G:A,NC_000008.11:7338643:G:C
Gene:: USP17L4 (Varview), FAM66B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.00003/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7338644G>A, NC_000008.11:g.7338644G>C, NC_000008.10:g.7196166G>A, NC_000008.10:g.7196166G>C, NW_018654717.1:g.5570167C>T, NW_018654717.1:g.5570167C>G, NM_001256874.1:c.1530G>A, NM_001256874.1:c.1530G>C, NM_001256869.2:c.1530G>A, NM_001256869.2:c.1530G>C, NM_001256869.1:c.1530G>A, NM_001256869.1:c.1530G>C

Select item 14882018416.

rs1488201841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:7337747 (GRCh38)
8:7195269 (GRCh37)
Canonical SPDI:: NC_000008.11:7337746:C:T
Gene:: USP17L4 (Varview), FAM66B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7337747C>T, NC_000008.10:g.7195269C>T, NW_018654717.1:g.5571064G>A, NM_001256874.1:c.633C>T, NM_001256869.2:c.633C>T, NM_001256869.1:c.633C>T

Select item 14876926787.

rs1487692678 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:7338312 (GRCh38)
8:7195834 (GRCh37)
Canonical SPDI:: NC_000008.11:7338311:G:C
Gene:: USP17L4 (Varview), FAM66B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.7338312G>C, NC_000008.10:g.7195834G>C, NW_018654717.1:g.5570499C>G, NM_001256874.1:c.1198G>C, NM_001256869.2:c.1198G>C, NM_001256869.1:c.1198G>C, NP_001243803.1:p.Asp400His

Select item 14860437158.

rs1486043715 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:7338005 (GRCh38)
8:7195527 (GRCh37)
Canonical SPDI:: NC_000008.11:7338004:T:A
Gene:: USP17L4 (Varview), FAM66B (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000009/1 (GnomAD)
A=0.000019/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7338005T>A, NC_000008.10:g.7195527T>A, NW_018654717.1:g.5570806A>T, NM_001256874.1:c.891T>A, NM_001256869.2:c.891T>A, NM_001256869.1:c.891T>A, NP_001243803.1:p.Tyr297Ter

Select item 14841497479.

rs1484149747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:7337900 (GRCh38)
8:7195422 (GRCh37)
Canonical SPDI:: NC_000008.11:7337899:G:A
Gene:: USP17L4 (Varview), FAM66B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.7337900G>A, NC_000008.10:g.7195422G>A, NW_018654717.1:g.5570911A>C, NW_018654717.1:g.5570911A>T, NM_001256874.1:c.786G>A, NM_001256869.2:c.786T>G, NM_001256869.2:c.786T>A, NM_001256869.1:c.786T>G, NM_001256869.1:c.786T>A

Select item 148406708910.

rs1484067089 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:7337612 (GRCh38)
8:7195134 (GRCh37)
Canonical SPDI:: NC_000008.11:7337611:G:A
Gene:: USP17L4 (Varview), FAM66B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.7337612G>A, NC_000008.10:g.7195134G>A, NW_018654717.1:g.5571199C>T, NM_001256874.1:c.498G>A, NM_001256869.2:c.498G>A, NM_001256869.1:c.498G>A, NP_001243803.1:p.Met166Ile

Select item 148084241911.

rs1480842419 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 8:7337565 (GRCh38)
8:7195087 (GRCh37)
Canonical SPDI:: NC_000008.11:7337564:G:C,NC_000008.11:7337564:G:T
Gene:: USP17L4 (Varview), FAM66B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00051/6 (ALFA)
T=0.00354/184 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7337565G>C, NC_000008.11:g.7337565G>T, NC_000008.10:g.7195087G>C, NC_000008.10:g.7195087G>T, NW_018654717.1:g.5571246C>G, NW_018654717.1:g.5571246C>A, NM_001256874.1:c.451G>C, NM_001256874.1:c.451G>T, NM_001256869.2:c.451G>C, NM_001256869.2:c.451G>T, NM_001256869.1:c.451G>C, NM_001256869.1:c.451G>T, NP_001243803.1:p.Ala151Pro, NP_001243803.1:p.Ala151Ser

Select item 148030775912.

rs1480307759 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:7337688 (GRCh38)
8:7195210 (GRCh37)
Canonical SPDI:: NC_000008.11:7337687:C:G,NC_000008.11:7337687:C:T
Gene:: USP17L4 (Varview), FAM66B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.00011/3 (TOMMO)
HGVS:: NC_000008.11:g.7337688C>G, NC_000008.11:g.7337688C>T, NC_000008.10:g.7195210C>G, NC_000008.10:g.7195210C>T, NW_018654717.1:g.5571123G>C, NW_018654717.1:g.5571123G>A, NM_001256874.1:c.574C>G, NM_001256874.1:c.574C>T, NM_001256869.2:c.574C>G, NM_001256869.2:c.574C>T, NM_001256869.1:c.574C>G, NM_001256869.1:c.574C>T, NP_001243803.1:p.Leu192Val, NP_001243803.1:p.Leu192Phe

Select item 147970595513.

rs1479705955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:7338378 (GRCh38)
8:7195900 (GRCh37)
Canonical SPDI:: NC_000008.11:7338377:G:A,NC_000008.11:7338377:G:C
Gene:: USP17L4 (Varview), FAM66B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.7338378G>A, NC_000008.11:g.7338378G>C, NC_000008.10:g.7195900G>A, NC_000008.10:g.7195900G>C, NW_018654717.1:g.5570433C>T, NW_018654717.1:g.5570433C>G, NM_001256874.1:c.1264G>A, NM_001256874.1:c.1264G>C, NM_001256869.2:c.1264G>A, NM_001256869.2:c.1264G>C, NM_001256869.1:c.1264G>A, NM_001256869.1:c.1264G>C, NP_001243803.1:p.Glu422Lys, NP_001243803.1:p.Glu422Gln

Select item 147917320514.

rs1479173205 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:7337195 (GRCh38)
8:7194717 (GRCh37)
Canonical SPDI:: NC_000008.11:7337194:A:G
Gene:: USP17L4 (Varview), FAM66B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.00002/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7337195A>G, NC_000008.10:g.7194717A>G, NW_018654717.1:g.5571616T>C, NM_001256874.1:c.81A>G, NM_001256869.2:c.81A>G, NM_001256869.1:c.81A>G

Select item 147907667615.

rs1479076676 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:7337445 (GRCh38)
8:7194967 (GRCh37)
Canonical SPDI:: NC_000008.11:7337444:C:G,NC_000008.11:7337444:C:T
Gene:: USP17L4 (Varview), FAM66B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.7337445C>G, NC_000008.11:g.7337445C>T, NC_000008.10:g.7194967C>G, NC_000008.10:g.7194967C>T, NW_018654717.1:g.5571366G>C, NW_018654717.1:g.5571366G>A, NM_001256874.1:c.331C>G, NM_001256874.1:c.331C>T, NM_001256869.2:c.331C>G, NM_001256869.2:c.331C>T, NM_001256869.1:c.331C>G, NM_001256869.1:c.331C>T, NP_001243803.1:p.Arg111Gly, NP_001243803.1:p.Arg111Trp

Select item 147888463516.

rs1478884635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:7338300 (GRCh38)
8:7195822 (GRCh37)
Canonical SPDI:: NC_000008.11:7338299:G:A
Gene:: USP17L4 (Varview), FAM66B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000214/3 (ALFA)
A=0.000014/1 (GnomAD_exomes)
A=0.000048/5 (GnomAD)
HGVS:: NC_000008.11:g.7338300G>A, NC_000008.10:g.7195822G>A, NW_018654717.1:g.5570511C>T, NM_001256874.1:c.1186G>A, NM_001256869.2:c.1186G>A, NM_001256869.1:c.1186G>A, NP_001243803.1:p.Ala396Thr

Select item 147840825217.

rs1478408252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:7338619 (GRCh38)
8:7196141 (GRCh37)
Canonical SPDI:: NC_000008.11:7338618:C:G
Gene:: USP17L4 (Varview), FAM66B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.7338619C>G, NC_000008.10:g.7196141C>G, NW_018654717.1:g.5570192G>C, NM_001256874.1:c.1505C>G, NM_001256869.2:c.1505C>G, NM_001256869.1:c.1505C>G, NP_001243803.1:p.Thr502Ser

Select item 147789301318.

rs1477893013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 8:7338595 (GRCh38)
8:7196117 (GRCh37)
Canonical SPDI:: NC_000008.11:7338594:C:A,NC_000008.11:7338594:C:G,NC_000008.11:7338594:C:T
Gene:: USP17L4 (Varview), FAM66B (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0./0 (SGDP_PRJ)
T=0.00381/272 (GnomAD)
T=0.0085/141 (TOMMO)
T=0.0097/28 (KOREAN)
HGVS:: NC_000008.11:g.7338595C>A, NC_000008.11:g.7338595C>G, NC_000008.11:g.7338595C>T, NC_000008.10:g.7196117C>A, NC_000008.10:g.7196117C>G, NC_000008.10:g.7196117C>T, NW_018654717.1:g.5570216G>T, NW_018654717.1:g.5570216G>C, NW_018654717.1:g.5570216G>A, NM_001256874.1:c.1481C>A, NM_001256874.1:c.1481C>G, NM_001256874.1:c.1481C>T, NM_001256869.2:c.1481C>A, NM_001256869.2:c.1481C>G, NM_001256869.2:c.1481C>T, NM_001256869.1:c.1481C>A, NM_001256869.1:c.1481C>G, NM_001256869.1:c.1481C>T, NP_001243803.1:p.Ser494Ter, NP_001243803.1:p.Ser494Trp, NP_001243803.1:p.Ser494Leu

Select item 147724650119.

rs1477246501 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:7338044 (GRCh38)
8:7195566 (GRCh37)
Canonical SPDI:: NC_000008.11:7338043:G:A
Gene:: USP17L4 (Varview), FAM66B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.00003/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7338044G>A, NC_000008.10:g.7195566G>A, NW_018654717.1:g.5570767C>T, NM_001256874.1:c.930G>A, NM_001256869.2:c.930G>A, NM_001256869.1:c.930G>A

Select item 147717442620.

rs1477174426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:7338176 (GRCh38)
8:7195698 (GRCh37)
Canonical SPDI:: NC_000008.11:7338175:C:G
Gene:: USP17L4 (Varview), FAM66B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.7338176C>G, NC_000008.10:g.7195698C>G, NW_018654717.1:g.5570635G>C, NM_001256874.1:c.1062C>G, NM_001256869.2:c.1062C>G, NM_001256869.1:c.1062C>G

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