SNP Links for Nucleotide (Select 1200005381) - SNP

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Select item 14901160141.

rs1490116014 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120093267 (GRCh38)
12:120531071 (GRCh37)
Canonical SPDI:: NC_000012.12:120093266:C:T
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120093267C>T, NC_000012.11:g.120531071C>T, XM_006719694.4:c.*106C>T, XM_006719694.3:c.*106C>T, XM_006719694.2:c.*106C>T, XM_006719694.1:c.*106C>T, XM_006719696.4:c.*106C>T, XM_006719696.3:c.*106C>T, XM_006719696.2:c.*106C>T, XM_006719696.1:c.*106C>T, XM_006719697.4:c.*106C>T, XM_006719697.3:c.*106C>T, XM_006719697.2:c.*106C>T, XM_006719697.1:c.*106C>T, NM_207311.2:c.*106C>T, XM_011539000.2:c.*106C>T, XM_011539000.1:c.*106C>T, NM_001367886.1:c.*106C>T, XM_047429890.1:c.*106C>T, NR_147892.1:n.2118C>T, NR_147893.1:n.1974C>T, NR_147894.1:n.1802C>T, XM_047429891.1:c.*106C>T

Select item 14899538012.

rs1489953801 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120093680 (GRCh38)
12:120531484 (GRCh37)
Canonical SPDI:: NC_000012.12:120093679:C:T
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.120093680C>T, NC_000012.11:g.120531484C>T, XM_006719694.4:c.*519C>T, XM_006719694.3:c.*519C>T, XM_006719694.2:c.*519C>T, XM_006719694.1:c.*519C>T, XM_006719696.4:c.*519C>T, XM_006719696.3:c.*519C>T, XM_006719696.2:c.*519C>T, XM_006719696.1:c.*519C>T, XM_006719697.4:c.*519C>T, XM_006719697.3:c.*519C>T, XM_006719697.2:c.*519C>T, XM_006719697.1:c.*519C>T, NM_207311.2:c.*519C>T, XM_011539000.2:c.*519C>T, XM_011539000.1:c.*519C>T, NM_001367886.1:c.*519C>T, XM_047429890.1:c.*519C>T, NR_147892.1:n.2531C>T, NR_147893.1:n.2387C>T, NR_147894.1:n.2215C>T, XM_047429891.1:c.*519C>T

Select item 14890739143.

rs1489073914 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 12:119989982 (GRCh38)
12:120427786 (GRCh37)
Canonical SPDI:: NC_000012.12:119989981:C:A,NC_000012.12:119989981:C:G,NC_000012.12:119989981:C:T
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/1 (GnomAD_exomes)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.119989982C>A, NC_000012.12:g.119989982C>G, NC_000012.12:g.119989982C>T, NC_000012.11:g.120427786C>A, NC_000012.11:g.120427786C>G, NC_000012.11:g.120427786C>T, XM_006719694.4:c.114C>A, XM_006719694.4:c.114C>G, XM_006719694.4:c.114C>T, XM_006719694.3:c.114C>A, XM_006719694.3:c.114C>G, XM_006719694.3:c.114C>T, XM_006719694.2:c.114C>A, XM_006719694.2:c.114C>G, XM_006719694.2:c.114C>T, XM_006719694.1:c.114C>A, XM_006719694.1:c.114C>G, XM_006719694.1:c.114C>T, XM_006719696.4:c.114C>A, XM_006719696.4:c.114C>G, XM_006719696.4:c.114C>T, XM_006719696.3:c.114C>A, XM_006719696.3:c.114C>G, XM_006719696.3:c.114C>T, XM_006719696.2:c.114C>A, XM_006719696.2:c.114C>G, XM_006719696.2:c.114C>T, XM_006719696.1:c.114C>A, XM_006719696.1:c.114C>G, XM_006719696.1:c.114C>T, XM_006719697.4:c.114C>A, XM_006719697.4:c.114C>G, XM_006719697.4:c.114C>T, XM_006719697.3:c.114C>A, XM_006719697.3:c.114C>G, XM_006719697.3:c.114C>T, XM_006719697.2:c.114C>A, XM_006719697.2:c.114C>G, XM_006719697.2:c.114C>T, XM_006719697.1:c.114C>A, XM_006719697.1:c.114C>G, XM_006719697.1:c.114C>T, XM_011538999.3:c.114C>A, XM_011538999.3:c.114C>G, XM_011538999.3:c.114C>T, XM_011538999.2:c.114C>A, XM_011538999.2:c.114C>G, XM_011538999.2:c.114C>T, XM_011538999.1:c.114C>A, XM_011538999.1:c.114C>G, XM_011538999.1:c.114C>T, NM_207311.2:c.114C>A, NM_207311.2:c.114C>G, NM_207311.2:c.114C>T, NM_001367886.1:c.114C>A, NM_001367886.1:c.114C>G, NM_001367886.1:c.114C>T, XM_047429890.1:c.114C>A, XM_047429890.1:c.114C>G, XM_047429890.1:c.114C>T, NR_147892.1:n.139C>A, NR_147892.1:n.139C>G, NR_147892.1:n.139C>T, NR_147893.1:n.139C>A, NR_147893.1:n.139C>G, NR_147893.1:n.139C>T, NR_147894.1:n.139C>A, NR_147894.1:n.139C>G, NR_147894.1:n.139C>T, XM_047429888.1:c.114C>A, XM_047429888.1:c.114C>G, XM_047429888.1:c.114C>T, XR_007063143.1:n.747C>A, XR_007063143.1:n.747C>G, XR_007063143.1:n.747C>T, XM_047429889.1:c.114C>A, XM_047429889.1:c.114C>G, XM_047429889.1:c.114C>T, XM_047429887.1:c.114C>A, XM_047429887.1:c.114C>G, XM_047429887.1:c.114C>T

Select item 14888770234.

rs1488877023 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:120090008 (GRCh38)
12:120527812 (GRCh37)
Canonical SPDI:: NC_000012.12:120090007:C:G
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.120090008C>G, NC_000012.11:g.120527812C>G, XM_006719694.4:c.1653C>G, XM_006719694.3:c.1653C>G, XM_006719694.2:c.1653C>G, XM_006719694.1:c.1653C>G, XM_006719696.4:c.1509C>G, XM_006719696.3:c.1509C>G, XM_006719696.2:c.1509C>G, XM_006719696.1:c.1509C>G, XM_006719697.4:c.1290C>G, XM_006719697.3:c.1290C>G, XM_006719697.2:c.1290C>G, XM_006719697.1:c.1290C>G, XM_011538999.3:c.1653C>G, XM_011538999.2:c.1653C>G, XM_011538999.1:c.1653C>G, NM_207311.2:c.1497C>G, XM_011539000.2:c.1041C>G, XM_011539000.1:c.1041C>G, NM_001367886.1:c.1641C>G, XM_047429890.1:c.1278C>G, NR_147892.1:n.1678C>G, NR_147893.1:n.1534C>G, NR_147894.1:n.1471C>G, XM_047429891.1:c.1029C>G, XM_047429888.1:c.1641C>G, XR_007063143.1:n.2286C>G, XM_047429889.1:c.1509C>G, XM_047429887.1:c.1653C>G, XP_006719757.1:p.Asn551Lys, XP_006719759.1:p.Asn503Lys, XP_006719760.1:p.Asn430Lys, XP_011537301.1:p.Asn551Lys, NP_997194.2:p.Asn499Lys, XP_011537302.1:p.Asn347Lys, NP_001354815.1:p.Asn547Lys, XP_047285846.1:p.Asn426Lys, XP_047285847.1:p.Asn343Lys, XP_047285844.1:p.Asn547Lys, XP_047285845.1:p.Asn503Lys, XP_047285843.1:p.Asn551Lys

Select item 14887465485.

rs1488746548 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:119990242 (GRCh38)
12:120428046 (GRCh37)
Canonical SPDI:: NC_000012.12:119990241:A:G
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000012.12:g.119990242A>G, NC_000012.11:g.120428046A>G, XM_006719694.4:c.374A>G, XM_006719694.3:c.374A>G, XM_006719694.2:c.374A>G, XM_006719694.1:c.374A>G, XM_006719696.4:c.374A>G, XM_006719696.3:c.374A>G, XM_006719696.2:c.374A>G, XM_006719696.1:c.374A>G, XM_006719697.4:c.374A>G, XM_006719697.3:c.374A>G, XM_006719697.2:c.374A>G, XM_006719697.1:c.374A>G, XM_011538999.3:c.374A>G, XM_011538999.2:c.374A>G, XM_011538999.1:c.374A>G, NM_207311.2:c.374A>G, NM_001367886.1:c.374A>G, XM_047429890.1:c.374A>G, NR_147892.1:n.399A>G, NR_147893.1:n.399A>G, NR_147894.1:n.399A>G, XM_047429888.1:c.374A>G, XR_007063143.1:n.1007A>G, XM_047429889.1:c.374A>G, XM_047429887.1:c.374A>G, XP_006719757.1:p.Gln125Arg, XP_006719759.1:p.Gln125Arg, XP_006719760.1:p.Gln125Arg, XP_011537301.1:p.Gln125Arg, NP_997194.2:p.Gln125Arg, NP_001354815.1:p.Gln125Arg, XP_047285846.1:p.Gln125Arg, XP_047285844.1:p.Gln125Arg, XP_047285845.1:p.Gln125Arg, XP_047285843.1:p.Gln125Arg

Select item 14886953316.

rs1488695331 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 12:119990184 (GRCh38)
12:120427988 (GRCh37)
Canonical SPDI:: NC_000012.12:119990181:AGAAG:AG
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,inframe_deletion,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000071/1 (TOMMO)
HGVS:: NC_000012.12:g.119990184_119990186del, NC_000012.11:g.120427988_120427990del, XM_006719694.4:c.316_318del, XM_006719694.3:c.316_318del, XM_006719694.2:c.316_318del, XM_006719694.1:c.316_318del, XM_006719696.4:c.316_318del, XM_006719696.3:c.316_318del, XM_006719696.2:c.316_318del, XM_006719696.1:c.316_318del, XM_006719697.4:c.316_318del, XM_006719697.3:c.316_318del, XM_006719697.2:c.316_318del, XM_006719697.1:c.316_318del, XM_011538999.3:c.316_318del, XM_011538999.2:c.316_318del, XM_011538999.1:c.316_318del, NM_207311.2:c.316_318del, NM_001367886.1:c.316_318del, XM_047429890.1:c.316_318del, NR_147892.1:n.341_343del, NR_147893.1:n.341_343del, NR_147894.1:n.341_343del, XM_047429888.1:c.316_318del, XR_007063143.1:n.949_951del, XM_047429889.1:c.316_318del, XM_047429887.1:c.316_318del, XP_006719757.1:p.Lys106del, XP_006719759.1:p.Lys106del, XP_006719760.1:p.Lys106del, XP_011537301.1:p.Lys106del, NP_997194.2:p.Lys106del, NP_001354815.1:p.Lys106del, XP_047285846.1:p.Lys106del, XP_047285844.1:p.Lys106del, XP_047285845.1:p.Lys106del, XP_047285843.1:p.Lys106del

Select item 14886662297.

rs1488666229 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:119990032 (GRCh38)
12:120427836 (GRCh37)
Canonical SPDI:: NC_000012.12:119990031:C:G
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (KOREAN)
G=0.000007/1 (GnomAD)
G=0.000016/2 (GnomAD_exomes)
G=0.000023/6 (TOPMED)
G=0.000564/1 (Korea1K)
HGVS:: NC_000012.12:g.119990032C>G, NC_000012.11:g.120427836C>G, XM_006719694.4:c.164C>G, XM_006719694.3:c.164C>G, XM_006719694.2:c.164C>G, XM_006719694.1:c.164C>G, XM_006719696.4:c.164C>G, XM_006719696.3:c.164C>G, XM_006719696.2:c.164C>G, XM_006719696.1:c.164C>G, XM_006719697.4:c.164C>G, XM_006719697.3:c.164C>G, XM_006719697.2:c.164C>G, XM_006719697.1:c.164C>G, XM_011538999.3:c.164C>G, XM_011538999.2:c.164C>G, XM_011538999.1:c.164C>G, NM_207311.2:c.164C>G, NM_001367886.1:c.164C>G, XM_047429890.1:c.164C>G, NR_147892.1:n.189C>G, NR_147893.1:n.189C>G, NR_147894.1:n.189C>G, XM_047429888.1:c.164C>G, XR_007063143.1:n.797C>G, XM_047429889.1:c.164C>G, XM_047429887.1:c.164C>G, XP_006719757.1:p.Ala55Gly, XP_006719759.1:p.Ala55Gly, XP_006719760.1:p.Ala55Gly, XP_011537301.1:p.Ala55Gly, NP_997194.2:p.Ala55Gly, NP_001354815.1:p.Ala55Gly, XP_047285846.1:p.Ala55Gly, XP_047285844.1:p.Ala55Gly, XP_047285845.1:p.Ala55Gly, XP_047285843.1:p.Ala55Gly

Select item 14882271788.

rs1488227178 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:120061730 (GRCh38)
12:120499534 (GRCh37)
Canonical SPDI:: NC_000012.12:120061729:A:T
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.120061730A>T, NC_000012.11:g.120499534A>T, XM_006719694.4:c.666A>T, XM_006719694.3:c.666A>T, XM_006719694.2:c.666A>T, XM_006719694.1:c.666A>T, XM_006719696.4:c.666A>T, XM_006719696.3:c.666A>T, XM_006719696.2:c.666A>T, XM_006719696.1:c.666A>T, XM_006719697.4:c.666A>T, XM_006719697.3:c.666A>T, XM_006719697.2:c.666A>T, XM_006719697.1:c.666A>T, XM_011538999.3:c.666A>T, XM_011538999.2:c.666A>T, XM_011538999.1:c.666A>T, NM_207311.2:c.666A>T, XM_011539000.2:c.54A>T, XM_011539000.1:c.54A>T, NM_001367886.1:c.666A>T, XM_047429890.1:c.666A>T, NR_147892.1:n.691A>T, NR_147893.1:n.691A>T, NR_147894.1:n.859A>T, XM_047429891.1:c.54A>T, XM_047429888.1:c.666A>T, XR_007063143.1:n.1299A>T, XM_047429889.1:c.666A>T, XM_047429887.1:c.666A>T, XP_006719757.1:p.Gln222His, XP_006719759.1:p.Gln222His, XP_006719760.1:p.Gln222His, XP_011537301.1:p.Gln222His, NP_997194.2:p.Gln222His, XP_011537302.1:p.Gln18His, NP_001354815.1:p.Gln222His, XP_047285846.1:p.Gln222His, XP_047285847.1:p.Gln18His, XP_047285844.1:p.Gln222His, XP_047285845.1:p.Gln222His, XP_047285843.1:p.Gln222His

Select item 14870759979.

rs1487075997 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:119998614 (GRCh38)
12:120436418 (GRCh37)
Canonical SPDI:: NC_000012.12:119998613:A:G
Gene:: BICDL1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.119998614A>G, NC_000012.11:g.120436418A>G, XM_006719694.4:c.523A>G, XM_006719694.3:c.523A>G, XM_006719694.2:c.523A>G, XM_006719694.1:c.523A>G, XM_006719696.4:c.523A>G, XM_006719696.3:c.523A>G, XM_006719696.2:c.523A>G, XM_006719696.1:c.523A>G, XM_006719697.4:c.523A>G, XM_006719697.3:c.523A>G, XM_006719697.2:c.523A>G, XM_006719697.1:c.523A>G, XM_011538999.3:c.523A>G, XM_011538999.2:c.523A>G, XM_011538999.1:c.523A>G, NM_207311.2:c.523A>G, NM_001367886.1:c.523A>G, XM_047429890.1:c.523A>G, NR_147892.1:n.548A>G, NR_147893.1:n.548A>G, NR_147894.1:n.548A>G, XM_047429888.1:c.523A>G, XR_007063143.1:n.1156A>G, XM_047429889.1:c.523A>G, XM_047429887.1:c.523A>G, XP_006719757.1:p.Lys175Glu, XP_006719759.1:p.Lys175Glu, XP_006719760.1:p.Lys175Glu, XP_011537301.1:p.Lys175Glu, NP_997194.2:p.Lys175Glu, NP_001354815.1:p.Lys175Glu, XP_047285846.1:p.Lys175Glu, XP_047285844.1:p.Lys175Glu, XP_047285845.1:p.Lys175Glu, XP_047285843.1:p.Lys175Glu

Select item 148687903210.

rs1486879032 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:120094372 (GRCh38)
12:120532176 (GRCh37)
Canonical SPDI:: NC_000012.12:120094371:A:C
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.120094372A>C, NC_000012.11:g.120532176A>C, XM_006719694.4:c.*1211A>C, XM_006719694.3:c.*1211A>C, XM_006719694.2:c.*1211A>C, XM_006719696.4:c.*1211A>C, XM_006719696.3:c.*1211A>C, XM_006719696.2:c.*1211A>C, XM_006719697.4:c.*1211A>C, XM_006719697.3:c.*1211A>C, XM_006719697.2:c.*1211A>C, NM_207311.2:c.*1211A>C, XM_011539000.2:c.*1211A>C, XM_011539000.1:c.*1211A>C, NM_001367886.1:c.*1211A>C, XM_047429890.1:c.*1211A>C, NR_147892.1:n.3223A>C, NR_147893.1:n.3079A>C, NR_147894.1:n.2907A>C, XM_047429891.1:c.*1211A>C

Select item 148618183311.

rs1486181833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120072685 (GRCh38)
12:120510489 (GRCh37)
Canonical SPDI:: NC_000012.12:120072684:C:T
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.120072685C>T, NC_000012.11:g.120510489C>T, XM_006719694.4:c.1276C>T, XM_006719694.3:c.1276C>T, XM_006719694.2:c.1276C>T, XM_006719694.1:c.1276C>T, XM_006719696.4:c.1276C>T, XM_006719696.3:c.1276C>T, XM_006719696.2:c.1276C>T, XM_006719696.1:c.1276C>T, XM_011538999.3:c.1276C>T, XM_011538999.2:c.1276C>T, XM_011538999.1:c.1276C>T, NM_207311.2:c.1264C>T, XM_011539000.2:c.664C>T, XM_011539000.1:c.664C>T, NM_001367886.1:c.1264C>T, NR_147892.1:n.1301C>T, NR_147893.1:n.1301C>T, XM_047429891.1:c.652C>T, XM_047429888.1:c.1264C>T, XR_007063143.1:n.1909C>T, XM_047429889.1:c.1276C>T, XM_047429887.1:c.1276C>T, XP_006719757.1:p.Leu426Phe, XP_006719759.1:p.Leu426Phe, XP_011537301.1:p.Leu426Phe, NP_997194.2:p.Leu422Phe, XP_011537302.1:p.Leu222Phe, NP_001354815.1:p.Leu422Phe, XP_047285847.1:p.Leu218Phe, XP_047285844.1:p.Leu422Phe, XP_047285845.1:p.Leu426Phe, XP_047285843.1:p.Leu426Phe

Select item 148514310012.

rs1485143100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:120071670 (GRCh38)
12:120509474 (GRCh37)
Canonical SPDI:: NC_000012.12:120071669:C:A
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000012.12:g.120071670C>A, NC_000012.11:g.120509474C>A, XM_006719694.4:c.970C>A, XM_006719694.3:c.970C>A, XM_006719694.2:c.970C>A, XM_006719694.1:c.970C>A, XM_006719696.4:c.970C>A, XM_006719696.3:c.970C>A, XM_006719696.2:c.970C>A, XM_006719696.1:c.970C>A, XM_006719697.4:c.970C>A, XM_006719697.3:c.970C>A, XM_006719697.2:c.970C>A, XM_006719697.1:c.970C>A, XM_011538999.3:c.970C>A, XM_011538999.2:c.970C>A, XM_011538999.1:c.970C>A, NM_207311.2:c.958C>A, XM_011539000.2:c.358C>A, XM_011539000.1:c.358C>A, NM_001367886.1:c.958C>A, XM_047429890.1:c.958C>A, NR_147892.1:n.995C>A, NR_147893.1:n.995C>A, NR_147894.1:n.1151C>A, XM_047429891.1:c.346C>A, XM_047429888.1:c.958C>A, XR_007063143.1:n.1603C>A, XM_047429889.1:c.970C>A, XM_047429887.1:c.970C>A, XP_006719757.1:p.Gln324Lys, XP_006719759.1:p.Gln324Lys, XP_006719760.1:p.Gln324Lys, XP_011537301.1:p.Gln324Lys, NP_997194.2:p.Gln320Lys, XP_011537302.1:p.Gln120Lys, NP_001354815.1:p.Gln320Lys, XP_047285846.1:p.Gln320Lys, XP_047285847.1:p.Gln116Lys, XP_047285844.1:p.Gln320Lys, XP_047285845.1:p.Gln324Lys, XP_047285843.1:p.Gln324Lys

Select item 148454561913.

rs1484545619 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120090935 (GRCh38)
12:120528739 (GRCh37)
Canonical SPDI:: NC_000012.12:120090934:A:G
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000016/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.120090935A>G, NC_000012.11:g.120528739A>G, XM_011538999.3:c.1741A>G, XM_011538999.2:c.1741A>G, XM_011538999.1:c.1741A>G, NR_147892.1:n.1766A>G, NR_147893.1:n.1622A>G, XM_047429888.1:c.1729A>G, XR_007063143.1:n.2374A>G, XM_047429889.1:c.1597A>G, XP_011537301.1:p.Ile581Val, XP_047285844.1:p.Ile577Val, XP_047285845.1:p.Ile533Val

Select item 148360562014.

rs1483605620 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120093784 (GRCh38)
12:120531588 (GRCh37)
Canonical SPDI:: NC_000012.12:120093783:C:T
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_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_000012.12:g.120093784C>T, NC_000012.11:g.120531588C>T, XM_006719694.4:c.*623C>T, XM_006719694.3:c.*623C>T, XM_006719694.2:c.*623C>T, XM_006719694.1:c.*623C>T, XM_006719696.4:c.*623C>T, XM_006719696.3:c.*623C>T, XM_006719696.2:c.*623C>T, XM_006719696.1:c.*623C>T, XM_006719697.4:c.*623C>T, XM_006719697.3:c.*623C>T, XM_006719697.2:c.*623C>T, XM_006719697.1:c.*623C>T, NM_207311.2:c.*623C>T, XM_011539000.2:c.*623C>T, XM_011539000.1:c.*623C>T, NM_001367886.1:c.*623C>T, XM_047429890.1:c.*623C>T, NR_147892.1:n.2635C>T, NR_147893.1:n.2491C>T, NR_147894.1:n.2319C>T, XM_047429891.1:c.*623C>T

Select item 148329567415.

rs1483295674 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:120093116 (GRCh38)
12:120530920 (GRCh37)
Canonical SPDI:: NC_000012.12:120093115:C:A
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.120093116C>A, NC_000012.11:g.120530920C>A, XM_006719694.4:c.1833C>A, XM_006719694.3:c.1833C>A, XM_006719694.2:c.1833C>A, XM_006719694.1:c.1833C>A, XM_006719696.4:c.1689C>A, XM_006719696.3:c.1689C>A, XM_006719696.2:c.1689C>A, XM_006719696.1:c.1689C>A, XM_006719697.4:c.1470C>A, XM_006719697.3:c.1470C>A, XM_006719697.2:c.1470C>A, XM_006719697.1:c.1470C>A, NM_207311.2:c.1677C>A, XM_011539000.2:c.1221C>A, XM_011539000.1:c.1221C>A, NM_001367886.1:c.1821C>A, XM_047429890.1:c.1458C>A, NR_147892.1:n.1967C>A, NR_147893.1:n.1823C>A, NR_147894.1:n.1651C>A, XM_047429891.1:c.1209C>A, XP_006719757.1:p.Ser611Arg, XP_006719759.1:p.Ser563Arg, XP_006719760.1:p.Ser490Arg, NP_997194.2:p.Ser559Arg, XP_011537302.1:p.Ser407Arg, NP_001354815.1:p.Ser607Arg, XP_047285846.1:p.Ser486Arg, XP_047285847.1:p.Ser403Arg

Select item 148257810816.

rs1482578108 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:120094315 (GRCh38)
12:120532119 (GRCh37)
Canonical SPDI:: NC_000012.12:120094314:T:C
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.120094315T>C, NC_000012.11:g.120532119T>C, XM_006719694.4:c.*1154T>C, XM_006719694.3:c.*1154T>C, XM_006719694.2:c.*1154T>C, XM_006719696.4:c.*1154T>C, XM_006719696.3:c.*1154T>C, XM_006719696.2:c.*1154T>C, XM_006719697.4:c.*1154T>C, XM_006719697.3:c.*1154T>C, XM_006719697.2:c.*1154T>C, NM_207311.2:c.*1154T>C, XM_011539000.2:c.*1154T>C, XM_011539000.1:c.*1154T>C, NM_001367886.1:c.*1154T>C, XM_047429890.1:c.*1154T>C, NR_147892.1:n.3166T>C, NR_147893.1:n.3022T>C, NR_147894.1:n.2850T>C, XM_047429891.1:c.*1154T>C

Select item 148237303117.

rs1482373031 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120061792 (GRCh38)
12:120499596 (GRCh37)
Canonical SPDI:: NC_000012.12:120061791:A:G
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.120061792A>G, NC_000012.11:g.120499596A>G, XM_006719694.4:c.728A>G, XM_006719694.3:c.728A>G, XM_006719694.2:c.728A>G, XM_006719694.1:c.728A>G, XM_006719696.4:c.728A>G, XM_006719696.3:c.728A>G, XM_006719696.2:c.728A>G, XM_006719696.1:c.728A>G, XM_006719697.4:c.728A>G, XM_006719697.3:c.728A>G, XM_006719697.2:c.728A>G, XM_006719697.1:c.728A>G, XM_011538999.3:c.728A>G, XM_011538999.2:c.728A>G, XM_011538999.1:c.728A>G, NM_207311.2:c.728A>G, XM_011539000.2:c.116A>G, XM_011539000.1:c.116A>G, NM_001367886.1:c.728A>G, XM_047429890.1:c.728A>G, NR_147892.1:n.753A>G, NR_147893.1:n.753A>G, NR_147894.1:n.921A>G, XM_047429891.1:c.116A>G, XM_047429888.1:c.728A>G, XR_007063143.1:n.1361A>G, XM_047429889.1:c.728A>G, XM_047429887.1:c.728A>G, XP_006719757.1:p.Gln243Arg, XP_006719759.1:p.Gln243Arg, XP_006719760.1:p.Gln243Arg, XP_011537301.1:p.Gln243Arg, NP_997194.2:p.Gln243Arg, XP_011537302.1:p.Gln39Arg, NP_001354815.1:p.Gln243Arg, XP_047285846.1:p.Gln243Arg, XP_047285847.1:p.Gln39Arg, XP_047285844.1:p.Gln243Arg, XP_047285845.1:p.Gln243Arg, XP_047285843.1:p.Gln243Arg

Select item 148160814818.

rs1481608148 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:119990127 (GRCh38)
12:120427931 (GRCh37)
Canonical SPDI:: NC_000012.12:119990126:G:A,NC_000012.12:119990126:G:T
Gene:: BICDL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.119990127G>A, NC_000012.12:g.119990127G>T, NC_000012.11:g.120427931G>A, NC_000012.11:g.120427931G>T, XM_006719694.4:c.259G>A, XM_006719694.4:c.259G>T, XM_006719694.3:c.259G>A, XM_006719694.3:c.259G>T, XM_006719694.2:c.259G>A, XM_006719694.2:c.259G>T, XM_006719694.1:c.259G>A, XM_006719694.1:c.259G>T, XM_006719696.4:c.259G>A, XM_006719696.4:c.259G>T, XM_006719696.3:c.259G>A, XM_006719696.3:c.259G>T, XM_006719696.2:c.259G>A, XM_006719696.2:c.259G>T, XM_006719696.1:c.259G>A, XM_006719696.1:c.259G>T, XM_006719697.4:c.259G>A, XM_006719697.4:c.259G>T, XM_006719697.3:c.259G>A, XM_006719697.3:c.259G>T, XM_006719697.2:c.259G>A, XM_006719697.2:c.259G>T, XM_006719697.1:c.259G>A, XM_006719697.1:c.259G>T, XM_011538999.3:c.259G>A, XM_011538999.3:c.259G>T, XM_011538999.2:c.259G>A, XM_011538999.2:c.259G>T, XM_011538999.1:c.259G>A, XM_011538999.1:c.259G>T, NM_207311.2:c.259G>A, NM_207311.2:c.259G>T, NM_001367886.1:c.259G>A, NM_001367886.1:c.259G>T, XM_047429890.1:c.259G>A, XM_047429890.1:c.259G>T, NR_147892.1:n.284G>A, NR_147892.1:n.284G>T, NR_147893.1:n.284G>A, NR_147893.1:n.284G>T, NR_147894.1:n.284G>A, NR_147894.1:n.284G>T, XM_047429888.1:c.259G>A, XM_047429888.1:c.259G>T, XR_007063143.1:n.892G>A, XR_007063143.1:n.892G>T, XM_047429889.1:c.259G>A, XM_047429889.1:c.259G>T, XM_047429887.1:c.259G>A, XM_047429887.1:c.259G>T, XP_006719757.1:p.Ala87Thr, XP_006719757.1:p.Ala87Ser, XP_006719759.1:p.Ala87Thr, XP_006719759.1:p.Ala87Ser, XP_006719760.1:p.Ala87Thr, XP_006719760.1:p.Ala87Ser, XP_011537301.1:p.Ala87Thr, XP_011537301.1:p.Ala87Ser, NP_997194.2:p.Ala87Thr, NP_997194.2:p.Ala87Ser, NP_001354815.1:p.Ala87Thr, NP_001354815.1:p.Ala87Ser, XP_047285846.1:p.Ala87Thr, XP_047285846.1:p.Ala87Ser, XP_047285844.1:p.Ala87Thr, XP_047285844.1:p.Ala87Ser, XP_047285845.1:p.Ala87Thr, XP_047285845.1:p.Ala87Ser, XP_047285843.1:p.Ala87Thr, XP_047285843.1:p.Ala87Ser

Select item 148073356919.

rs1480733569 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 12:120094226 (GRCh38)
12:120532030 (GRCh37)
Canonical SPDI:: NC_000012.12:120094225:CCC:CC
Gene:: BICDL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000162/3 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000021/3 (GnomAD)
-=0.000446/2 (Estonian)
HGVS:: NC_000012.12:g.120094228del, NC_000012.11:g.120532032del, XM_006719694.4:c.*1067del, XM_006719694.3:c.*1067del, XM_006719694.2:c.*1067del, XM_006719696.4:c.*1067del, XM_006719696.3:c.*1067del, XM_006719696.2:c.*1067del, XM_006719697.4:c.*1067del, XM_006719697.3:c.*1067del, XM_006719697.2:c.*1067del, NM_207311.2:c.*1067del, XM_011539000.2:c.*1067del, XM_011539000.1:c.*1067del, NM_001367886.1:c.*1067del, XM_047429890.1:c.*1067del, NR_147892.1:n.3079del, NR_147893.1:n.2935del, NR_147894.1:n.2763del, XM_047429891.1:c.*1067del

Select item 148008192120.

rs1480081921 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 12:120093571 (GRCh38)
12:120531375 (GRCh37)
Canonical SPDI:: NC_000012.12:120093570:C:A,NC_000012.12:120093570:C:G,NC_000012.12:120093570:C:T
Gene:: BICDL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000012.12:g.120093571C>A, NC_000012.12:g.120093571C>G, NC_000012.12:g.120093571C>T, NC_000012.11:g.120531375C>A, NC_000012.11:g.120531375C>G, NC_000012.11:g.120531375C>T, XM_006719694.4:c.*410C>A, XM_006719694.4:c.*410C>G, XM_006719694.4:c.*410C>T, XM_006719694.3:c.*410C>A, XM_006719694.3:c.*410C>G, XM_006719694.3:c.*410C>T, XM_006719694.2:c.*410C>A, XM_006719694.2:c.*410C>G, XM_006719694.2:c.*410C>T, XM_006719694.1:c.*410C>A, XM_006719694.1:c.*410C>G, XM_006719694.1:c.*410C>T, XM_006719696.4:c.*410C>A, XM_006719696.4:c.*410C>G, XM_006719696.4:c.*410C>T, XM_006719696.3:c.*410C>A, XM_006719696.3:c.*410C>G, XM_006719696.3:c.*410C>T, XM_006719696.2:c.*410C>A, XM_006719696.2:c.*410C>G, XM_006719696.2:c.*410C>T, XM_006719696.1:c.*410C>A, XM_006719696.1:c.*410C>G, XM_006719696.1:c.*410C>T, XM_006719697.4:c.*410C>A, XM_006719697.4:c.*410C>G, XM_006719697.4:c.*410C>T, XM_006719697.3:c.*410C>A, XM_006719697.3:c.*410C>G, XM_006719697.3:c.*410C>T, XM_006719697.2:c.*410C>A, XM_006719697.2:c.*410C>G, XM_006719697.2:c.*410C>T, XM_006719697.1:c.*410C>A, XM_006719697.1:c.*410C>G, XM_006719697.1:c.*410C>T, NM_207311.2:c.*410C>A, NM_207311.2:c.*410C>G, NM_207311.2:c.*410C>T, XM_011539000.2:c.*410C>A, XM_011539000.2:c.*410C>G, XM_011539000.2:c.*410C>T, XM_011539000.1:c.*410C>A, XM_011539000.1:c.*410C>G, XM_011539000.1:c.*410C>T, NM_001367886.1:c.*410C>A, NM_001367886.1:c.*410C>G, NM_001367886.1:c.*410C>T, XM_047429890.1:c.*410C>A, XM_047429890.1:c.*410C>G, XM_047429890.1:c.*410C>T, NR_147892.1:n.2422C>A, NR_147892.1:n.2422C>G, NR_147892.1:n.2422C>T, NR_147893.1:n.2278C>A, NR_147893.1:n.2278C>G, NR_147893.1:n.2278C>T, NR_147894.1:n.2106C>A, NR_147894.1:n.2106C>G, NR_147894.1:n.2106C>T, XM_047429891.1:c.*410C>A, XM_047429891.1:c.*410C>G, XM_047429891.1:c.*410C>T

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