SNP Links for Nucleotide (Select 1184127266) - SNP

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Select item 14908639761.

rs1490863976 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:14146755 (GRCh38)
7:14186380 (GRCh37)
Canonical SPDI:: NC_000007.14:14146754:C:T
Gene:: DGKB (Varview)
Functional Consequence:: 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_000007.14:g.14146755C>T, NC_000007.13:g.14186380C>T, NG_029494.2:g.833023G>A, NM_001350707.2:c.*2376G>A, NM_001350707.1:c.*2376G>A, NM_001350706.2:c.*2376G>A, NM_001350706.1:c.*2376G>A, NM_001350709.2:c.*2376G>A, NM_001350709.1:c.*2376G>A, NM_001350716.2:c.*2376G>A, NM_001350716.1:c.*2376G>A, NM_001350711.2:c.*2376G>A, NM_001350711.1:c.*2376G>A, NM_001350714.2:c.*2376G>A, NM_001350714.1:c.*2376G>A, NM_001350722.2:c.*2376G>A, NM_001350722.1:c.*2376G>A, NM_001350717.2:c.*2376G>A, NM_001350717.1:c.*2376G>A, NM_001350723.2:c.*2376G>A, NM_001350723.1:c.*2376G>A, NM_001350719.2:c.*2376G>A, NM_001350719.1:c.*2376G>A, NM_001350721.2:c.*2376G>A, NM_001350721.1:c.*2376G>A, NM_001350724.2:c.*2376G>A, NM_001350724.1:c.*2376G>A, NM_001350705.1:c.*2376G>A, NM_001350708.1:c.*2376G>A, NM_001350715.1:c.*2376G>A, NM_001350712.1:c.*2376G>A, NM_001350718.1:c.*2376G>A, NM_001350720.1:c.*2376G>A, XM_011515154.3:c.*2376G>A, XM_011515154.1:c.*2376G>A, NM_004080.2:c.*2376G>A, XM_047419929.1:c.*2376G>A

Select item 14903871662.

rs1490387166 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:14147180 (GRCh38)
7:14186805 (GRCh37)
Canonical SPDI:: NC_000007.14:14147179:G:T
Gene:: DGKB (Varview)
Functional Consequence:: 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_000007.14:g.14147180G>T, NC_000007.13:g.14186805G>T, NG_029494.2:g.832598C>A, NM_001350707.2:c.*1951C>A, NM_001350707.1:c.*1951C>A, NM_001350706.2:c.*1951C>A, NM_001350706.1:c.*1951C>A, NM_001350709.2:c.*1951C>A, NM_001350709.1:c.*1951C>A, NM_001350716.2:c.*1951C>A, NM_001350716.1:c.*1951C>A, NM_001350711.2:c.*1951C>A, NM_001350711.1:c.*1951C>A, NM_001350714.2:c.*1951C>A, NM_001350714.1:c.*1951C>A, NM_001350722.2:c.*1951C>A, NM_001350722.1:c.*1951C>A, NM_001350717.2:c.*1951C>A, NM_001350717.1:c.*1951C>A, NM_001350723.2:c.*1951C>A, NM_001350723.1:c.*1951C>A, NM_001350719.2:c.*1951C>A, NM_001350719.1:c.*1951C>A, NM_001350721.2:c.*1951C>A, NM_001350721.1:c.*1951C>A, NM_001350724.2:c.*1951C>A, NM_001350724.1:c.*1951C>A, NM_001350705.1:c.*1951C>A, NM_001350708.1:c.*1951C>A, NM_001350715.1:c.*1951C>A, NM_001350712.1:c.*1951C>A, NM_001350718.1:c.*1951C>A, NM_001350720.1:c.*1951C>A, XM_011515154.3:c.*1951C>A, XM_011515154.1:c.*1951C>A, NM_004080.2:c.*1951C>A, XM_047419929.1:c.*1951C>A

Select item 14898961843.

rs1489896184 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:14147569 (GRCh38)
7:14187194 (GRCh37)
Canonical SPDI:: NC_000007.14:14147568:T:C
Gene:: DGKB (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.14147569T>C, NC_000007.13:g.14187194T>C, NG_029494.2:g.832209A>G, NM_001350707.2:c.*1562A>G, NM_001350707.1:c.*1562A>G, NM_001350706.2:c.*1562A>G, NM_001350706.1:c.*1562A>G, NM_001350709.2:c.*1562A>G, NM_001350709.1:c.*1562A>G, NM_001350716.2:c.*1562A>G, NM_001350716.1:c.*1562A>G, NM_001350711.2:c.*1562A>G, NM_001350711.1:c.*1562A>G, NM_001350714.2:c.*1562A>G, NM_001350714.1:c.*1562A>G, NM_001350722.2:c.*1562A>G, NM_001350722.1:c.*1562A>G, NM_001350717.2:c.*1562A>G, NM_001350717.1:c.*1562A>G, NM_001350723.2:c.*1562A>G, NM_001350723.1:c.*1562A>G, NM_001350719.2:c.*1562A>G, NM_001350719.1:c.*1562A>G, NM_001350721.2:c.*1562A>G, NM_001350721.1:c.*1562A>G, NM_001350724.2:c.*1562A>G, NM_001350724.1:c.*1562A>G, NM_001350705.1:c.*1562A>G, NM_001350708.1:c.*1562A>G, NM_001350715.1:c.*1562A>G, NM_001350712.1:c.*1562A>G, NM_001350718.1:c.*1562A>G, NM_001350720.1:c.*1562A>G, XM_011515154.3:c.*1562A>G, XM_011515154.1:c.*1562A>G, NM_004080.2:c.*1562A>G, XM_047419929.1:c.*1562A>G

Select item 14896607104.

rs1489660710 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:14148432 (GRCh38)
7:14188057 (GRCh37)
Canonical SPDI:: NC_000007.14:14148431:T:C
Gene:: DGKB (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.14148432T>C, NC_000007.13:g.14188057T>C, NG_029494.2:g.831346A>G, NM_001350707.2:c.*699A>G, NM_001350707.1:c.*699A>G, NM_001350706.2:c.*699A>G, NM_001350706.1:c.*699A>G, NM_001350709.2:c.*699A>G, NM_001350709.1:c.*699A>G, NM_001350716.2:c.*699A>G, NM_001350716.1:c.*699A>G, NM_001350711.2:c.*699A>G, NM_001350711.1:c.*699A>G, NM_001350714.2:c.*699A>G, NM_001350714.1:c.*699A>G, NM_001350722.2:c.*699A>G, NM_001350722.1:c.*699A>G, NM_001350717.2:c.*699A>G, NM_001350717.1:c.*699A>G, NM_001350723.2:c.*699A>G, NM_001350723.1:c.*699A>G, NM_001350719.2:c.*699A>G, NM_001350719.1:c.*699A>G, NM_001350721.2:c.*699A>G, NM_001350721.1:c.*699A>G, NM_001350724.2:c.*699A>G, NM_001350724.1:c.*699A>G, NM_001350705.1:c.*699A>G, NM_001350708.1:c.*699A>G, NM_001350715.1:c.*699A>G, NM_001350712.1:c.*699A>G, NM_001350718.1:c.*699A>G, NM_001350720.1:c.*699A>G, XM_011515154.3:c.*699A>G, XM_011515154.2:c.*699A>G, XM_011515154.1:c.*699A>G, NM_004080.2:c.*699A>G, XM_047419929.1:c.*699A>G

Select item 14891810955.

rs1489181095 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:14338675 (GRCh38)
7:14378300 (GRCh37)
Canonical SPDI:: NC_000007.14:14338674:A:G
Gene:: DGKB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.14338675A>G, NC_000007.13:g.14378300A>G, NG_029494.2:g.641103T>C, NM_001350707.2:c.1962T>C, NM_001350707.1:c.1962T>C, NM_001350706.2:c.1965T>C, NM_001350706.1:c.1965T>C, NM_001350709.2:c.1962T>C, NM_001350709.1:c.1962T>C, NM_001350716.2:c.1944T>C, NM_001350716.1:c.1944T>C, NM_001350711.2:c.1941T>C, NM_001350711.1:c.1941T>C, NM_001350714.2:c.1941T>C, NM_001350714.1:c.1941T>C, NM_001350722.2:c.1839T>C, NM_001350722.1:c.1839T>C, NM_001350717.2:c.1929T>C, NM_001350717.1:c.1929T>C, NM_001350723.2:c.1839T>C, NM_001350723.1:c.1839T>C, NM_001350719.2:c.1929T>C, NM_001350719.1:c.1929T>C, NM_001350721.2:c.1908T>C, NM_001350721.1:c.1908T>C, NM_001350724.2:c.1815T>C, NM_001350724.1:c.1815T>C, NM_145695.2:c.1965T>C, NM_001350705.1:c.1965T>C, NM_001350708.1:c.1962T>C, NM_001350715.1:c.1944T>C, NM_001350712.1:c.1941T>C, NM_001350718.1:c.1929T>C, NM_001350720.1:c.1908T>C, XM_011515154.3:c.1965T>C, XM_011515154.2:c.1965T>C, XM_011515154.1:c.1965T>C, NM_004080.2:c.1965T>C, XM_017011790.2:c.1965T>C, XM_017011790.1:c.1965T>C, XM_047419929.1:c.1425T>C

Select item 14882800916.

rs1488280091 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:14145535 (GRCh38)
7:14185160 (GRCh37)
Canonical SPDI:: NC_000007.14:14145534:T:G
Gene:: DGKB (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.14145535T>G, NC_000007.13:g.14185160T>G, NG_029494.2:g.834243A>C, NM_001350707.2:c.*3596A>C, NM_001350707.1:c.*3596A>C, NM_001350706.2:c.*3596A>C, NM_001350706.1:c.*3596A>C, NM_001350709.2:c.*3596A>C, NM_001350709.1:c.*3596A>C, NM_001350716.2:c.*3596A>C, NM_001350716.1:c.*3596A>C, NM_001350711.2:c.*3596A>C, NM_001350711.1:c.*3596A>C, NM_001350714.2:c.*3596A>C, NM_001350714.1:c.*3596A>C, NM_001350722.2:c.*3596A>C, NM_001350722.1:c.*3596A>C, NM_001350717.2:c.*3596A>C, NM_001350717.1:c.*3596A>C, NM_001350723.2:c.*3596A>C, NM_001350723.1:c.*3596A>C, NM_001350719.2:c.*3596A>C, NM_001350719.1:c.*3596A>C, NM_001350721.2:c.*3596A>C, NM_001350721.1:c.*3596A>C, NM_001350724.2:c.*3596A>C, NM_001350724.1:c.*3596A>C, NM_001350705.1:c.*3596A>C, NM_001350708.1:c.*3596A>C, NM_001350715.1:c.*3596A>C, NM_001350712.1:c.*3596A>C, NM_001350718.1:c.*3596A>C, NM_001350720.1:c.*3596A>C, XM_011515154.3:c.*3596A>C, XM_011515154.1:c.*3596A>C, NM_004080.2:c.*3596A>C, XM_047419929.1:c.*3596A>C

Select item 14876853847.

rs1487685384 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:14146355 (GRCh38)
7:14185980 (GRCh37)
Canonical SPDI:: NC_000007.14:14146354:T:C
Gene:: DGKB (Varview)
Functional Consequence:: 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)
C=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.14146355T>C, NC_000007.13:g.14185980T>C, NG_029494.2:g.833423A>G, NM_001350707.2:c.*2776A>G, NM_001350707.1:c.*2776A>G, NM_001350706.2:c.*2776A>G, NM_001350706.1:c.*2776A>G, NM_001350709.2:c.*2776A>G, NM_001350709.1:c.*2776A>G, NM_001350716.2:c.*2776A>G, NM_001350716.1:c.*2776A>G, NM_001350711.2:c.*2776A>G, NM_001350711.1:c.*2776A>G, NM_001350714.2:c.*2776A>G, NM_001350714.1:c.*2776A>G, NM_001350722.2:c.*2776A>G, NM_001350722.1:c.*2776A>G, NM_001350717.2:c.*2776A>G, NM_001350717.1:c.*2776A>G, NM_001350723.2:c.*2776A>G, NM_001350723.1:c.*2776A>G, NM_001350719.2:c.*2776A>G, NM_001350719.1:c.*2776A>G, NM_001350721.2:c.*2776A>G, NM_001350721.1:c.*2776A>G, NM_001350724.2:c.*2776A>G, NM_001350724.1:c.*2776A>G, NM_001350705.1:c.*2776A>G, NM_001350708.1:c.*2776A>G, NM_001350715.1:c.*2776A>G, NM_001350712.1:c.*2776A>G, NM_001350718.1:c.*2776A>G, NM_001350720.1:c.*2776A>G, XM_011515154.3:c.*2776A>G, XM_011515154.1:c.*2776A>G, NM_004080.2:c.*2776A>G, XM_047419929.1:c.*2776A>G

Select item 14872955148.

rs1487295514 has merged into rs1192813674 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 7:14145930 (GRCh38)
7:14185555 (GRCh37)
Canonical SPDI:: NC_000007.14:14145929:AAAAAA:AAAAA,NC_000007.14:14145929:AAAAAA:AAAAAAA
Gene:: DGKB (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.000057/8 (GnomAD)
HGVS:: NC_000007.14:g.14145935del, NC_000007.14:g.14145935dup, NC_000007.13:g.14185560del, NC_000007.13:g.14185560dup, NG_029494.2:g.833848del, NG_029494.2:g.833848dup, NM_001350707.2:c.*3201del, NM_001350707.2:c.*3201dup, NM_001350707.1:c.*3201del, NM_001350707.1:c.*3201dup, NM_001350706.2:c.*3201del, NM_001350706.2:c.*3201dup, NM_001350706.1:c.*3201del, NM_001350706.1:c.*3201dup, NM_001350709.2:c.*3201del, NM_001350709.2:c.*3201dup, NM_001350709.1:c.*3201del, NM_001350709.1:c.*3201dup, NM_001350716.2:c.*3201del, NM_001350716.2:c.*3201dup, NM_001350716.1:c.*3201del, NM_001350716.1:c.*3201dup, NM_001350711.2:c.*3201del, NM_001350711.2:c.*3201dup, NM_001350711.1:c.*3201del, NM_001350711.1:c.*3201dup, NM_001350714.2:c.*3201del, NM_001350714.2:c.*3201dup, NM_001350714.1:c.*3201del, NM_001350714.1:c.*3201dup, NM_001350722.2:c.*3201del, NM_001350722.2:c.*3201dup, NM_001350722.1:c.*3201del, NM_001350722.1:c.*3201dup, NM_001350717.2:c.*3201del, NM_001350717.2:c.*3201dup, NM_001350717.1:c.*3201del, NM_001350717.1:c.*3201dup, NM_001350723.2:c.*3201del, NM_001350723.2:c.*3201dup, NM_001350723.1:c.*3201del, NM_001350723.1:c.*3201dup, NM_001350719.2:c.*3201del, NM_001350719.2:c.*3201dup, NM_001350719.1:c.*3201del, NM_001350719.1:c.*3201dup, NM_001350721.2:c.*3201del, NM_001350721.2:c.*3201dup, NM_001350721.1:c.*3201del, NM_001350721.1:c.*3201dup, NM_001350724.2:c.*3201del, NM_001350724.2:c.*3201dup, NM_001350724.1:c.*3201del, NM_001350724.1:c.*3201dup, NM_001350705.1:c.*3201del, NM_001350705.1:c.*3201dup, NM_001350708.1:c.*3201del, NM_001350708.1:c.*3201dup, NM_001350715.1:c.*3201del, NM_001350715.1:c.*3201dup, NM_001350712.1:c.*3201del, NM_001350712.1:c.*3201dup, NM_001350718.1:c.*3201del, NM_001350718.1:c.*3201dup, NM_001350720.1:c.*3201del, NM_001350720.1:c.*3201dup, XM_011515154.3:c.*3201del, XM_011515154.3:c.*3201dup, XM_011515154.1:c.*3201del, XM_011515154.1:c.*3201dup, NM_004080.2:c.*3201del, NM_004080.2:c.*3201dup, XM_047419929.1:c.*3201del, XM_047419929.1:c.*3201dup

Select item 14871963699.

rs1487196369 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:14694154 (GRCh38)
7:14733779 (GRCh37)
Canonical SPDI:: NC_000007.14:14694153:T:C
Gene:: DGKB (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_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_000007.14:g.14694154T>C, NC_000007.13:g.14733779T>C, NG_029494.2:g.285624A>G, NM_001350707.2:c.632A>G, NM_001350707.1:c.632A>G, NM_001350706.2:c.632A>G, NM_001350706.1:c.632A>G, NM_001350709.2:c.632A>G, NM_001350709.1:c.632A>G, NM_001350716.2:c.611A>G, NM_001350716.1:c.611A>G, NM_001350711.2:c.611A>G, NM_001350711.1:c.611A>G, NM_001350714.2:c.611A>G, NM_001350714.1:c.611A>G, NM_001350722.2:c.506A>G, NM_001350722.1:c.506A>G, NM_001350717.2:c.632A>G, NM_001350717.1:c.632A>G, NM_001350723.2:c.506A>G, NM_001350723.1:c.506A>G, NM_001350719.2:c.632A>G, NM_001350719.1:c.632A>G, NM_001350721.2:c.611A>G, NM_001350721.1:c.611A>G, NM_001350724.2:c.485A>G, NM_001350724.1:c.485A>G, NM_145695.2:c.632A>G, NM_001350705.1:c.632A>G, NM_001350708.1:c.632A>G, NM_001350715.1:c.611A>G, NM_001350712.1:c.611A>G, NM_001350718.1:c.632A>G, NM_001350720.1:c.611A>G, XM_011515154.3:c.632A>G, XM_011515154.2:c.632A>G, XM_011515154.1:c.632A>G, XM_017011792.3:c.632A>G, XM_017011792.2:c.632A>G, XM_017011792.1:c.632A>G, NM_004080.2:c.632A>G, XM_017011791.2:c.632A>G, XM_017011791.1:c.632A>G, XM_017011790.2:c.632A>G, XM_017011790.1:c.632A>G, XR_001744571.2:n.979A>G, XR_001744571.1:n.1185A>G, XM_047419930.1:c.611A>G, XM_047419929.1:c.92A>G, NP_001337636.1:p.Asp211Gly, NP_001337635.1:p.Asp211Gly, NP_001337638.1:p.Asp211Gly, NP_001337645.1:p.Asp204Gly, NP_001337640.1:p.Asp204Gly, NP_001337643.1:p.Asp204Gly, NP_001337651.1:p.Asp169Gly, NP_001337646.1:p.Asp211Gly, NP_001337652.1:p.Asp169Gly, NP_001337648.1:p.Asp211Gly, NP_001337650.1:p.Asp204Gly, NP_001337653.1:p.Asp162Gly, NP_663733.1:p.Asp211Gly, NP_001337634.1:p.Asp211Gly, NP_001337637.1:p.Asp211Gly, NP_001337644.1:p.Asp204Gly, NP_001337641.1:p.Asp204Gly, NP_001337647.1:p.Asp211Gly, NP_001337649.1:p.Asp204Gly, XP_011513456.1:p.Asp211Gly, XP_016867281.1:p.Asp211Gly, XP_016867280.1:p.Asp211Gly, XP_016867279.1:p.Asp211Gly, XP_047275886.1:p.Asp204Gly, XP_047275885.1:p.Asp31Gly

Select item 148683697310.

rs1486836973 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:14147406 (GRCh38)
7:14187031 (GRCh37)
Canonical SPDI:: NC_000007.14:14147405:C:T
Gene:: DGKB (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.14147406C>T, NC_000007.13:g.14187031C>T, NG_029494.2:g.832372G>A, NM_001350707.2:c.*1725G>A, NM_001350707.1:c.*1725G>A, NM_001350706.2:c.*1725G>A, NM_001350706.1:c.*1725G>A, NM_001350709.2:c.*1725G>A, NM_001350709.1:c.*1725G>A, NM_001350716.2:c.*1725G>A, NM_001350716.1:c.*1725G>A, NM_001350711.2:c.*1725G>A, NM_001350711.1:c.*1725G>A, NM_001350714.2:c.*1725G>A, NM_001350714.1:c.*1725G>A, NM_001350722.2:c.*1725G>A, NM_001350722.1:c.*1725G>A, NM_001350717.2:c.*1725G>A, NM_001350717.1:c.*1725G>A, NM_001350723.2:c.*1725G>A, NM_001350723.1:c.*1725G>A, NM_001350719.2:c.*1725G>A, NM_001350719.1:c.*1725G>A, NM_001350721.2:c.*1725G>A, NM_001350721.1:c.*1725G>A, NM_001350724.2:c.*1725G>A, NM_001350724.1:c.*1725G>A, NM_001350705.1:c.*1725G>A, NM_001350708.1:c.*1725G>A, NM_001350715.1:c.*1725G>A, NM_001350712.1:c.*1725G>A, NM_001350718.1:c.*1725G>A, NM_001350720.1:c.*1725G>A, XM_011515154.3:c.*1725G>A, XM_011515154.1:c.*1725G>A, NM_004080.2:c.*1725G>A, XM_047419929.1:c.*1725G>A

Select item 148666941511.

rs1486669415 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:14630239 (GRCh38)
7:14669864 (GRCh37)
Canonical SPDI:: NC_000007.14:14630238:A:G
Gene:: DGKB (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000007.14:g.14630239A>G, NC_000007.13:g.14669864A>G, NG_029494.2:g.349539T>C, NM_001350707.2:c.1164T>C, NM_001350707.1:c.1164T>C, NM_001350706.2:c.1167T>C, NM_001350706.1:c.1167T>C, NM_001350709.2:c.1164T>C, NM_001350709.1:c.1164T>C, NM_001350716.2:c.1146T>C, NM_001350716.1:c.1146T>C, NM_001350711.2:c.1143T>C, NM_001350711.1:c.1143T>C, NM_001350714.2:c.1143T>C, NM_001350714.1:c.1143T>C, NM_001350722.2:c.1041T>C, NM_001350722.1:c.1041T>C, NM_001350723.2:c.1041T>C, NM_001350723.1:c.1041T>C, NM_001350724.2:c.1017T>C, NM_001350724.1:c.1017T>C, NM_145695.2:c.1167T>C, NM_001350705.1:c.1167T>C, NM_001350708.1:c.1164T>C, NM_001350715.1:c.1146T>C, NM_001350712.1:c.1143T>C, XM_011515154.3:c.1167T>C, XM_011515154.2:c.1167T>C, XM_011515154.1:c.1167T>C, XM_017011792.3:c.1167T>C, XM_017011792.2:c.1167T>C, XM_017011792.1:c.1167T>C, NM_004080.2:c.1167T>C, XM_017011791.2:c.1167T>C, XM_017011791.1:c.1167T>C, XM_017011790.2:c.1167T>C, XM_017011790.1:c.1167T>C, XR_001744571.2:n.1514T>C, XR_001744571.1:n.1720T>C, XM_047419930.1:c.1143T>C, XM_047419929.1:c.627T>C

Select item 148660604612.

rs1486606046 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 7:14145349 (GRCh38)
7:14184974 (GRCh37)
Canonical SPDI:: NC_000007.14:14145348:A:
Gene:: DGKB (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.14145349del, NC_000007.13:g.14184974del, NG_029494.2:g.834429del, NM_001350707.2:c.*3782del, NM_001350707.1:c.*3782del, NM_001350706.2:c.*3782del, NM_001350706.1:c.*3782del, NM_001350709.2:c.*3782del, NM_001350709.1:c.*3782del, NM_001350716.2:c.*3782del, NM_001350716.1:c.*3782del, NM_001350711.2:c.*3782del, NM_001350711.1:c.*3782del, NM_001350714.2:c.*3782del, NM_001350714.1:c.*3782del, NM_001350722.2:c.*3782del, NM_001350722.1:c.*3782del, NM_001350717.2:c.*3782del, NM_001350717.1:c.*3782del, NM_001350723.2:c.*3782del, NM_001350723.1:c.*3782del, NM_001350719.2:c.*3782del, NM_001350719.1:c.*3782del, NM_001350721.2:c.*3782del, NM_001350721.1:c.*3782del, NM_001350724.2:c.*3782del, NM_001350724.1:c.*3782del, NM_001350705.1:c.*3782del, NM_001350708.1:c.*3782del, NM_001350715.1:c.*3782del, NM_001350712.1:c.*3782del, NM_001350718.1:c.*3782del, NM_001350720.1:c.*3782del, XM_011515154.3:c.*3782del, XM_011515154.1:c.*3782del, NM_004080.2:c.*3782del, XM_047419929.1:c.*3782del

Select item 148610951313.

rs1486109513 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:14148557 (GRCh38)
7:14188182 (GRCh37)
Canonical SPDI:: NC_000007.14:14148556:T:G
Gene:: DGKB (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.14148557T>G, NC_000007.13:g.14188182T>G, NG_029494.2:g.831221A>C, NM_001350707.2:c.*574A>C, NM_001350707.1:c.*574A>C, NM_001350706.2:c.*574A>C, NM_001350706.1:c.*574A>C, NM_001350709.2:c.*574A>C, NM_001350709.1:c.*574A>C, NM_001350716.2:c.*574A>C, NM_001350716.1:c.*574A>C, NM_001350711.2:c.*574A>C, NM_001350711.1:c.*574A>C, NM_001350714.2:c.*574A>C, NM_001350714.1:c.*574A>C, NM_001350722.2:c.*574A>C, NM_001350722.1:c.*574A>C, NM_001350717.2:c.*574A>C, NM_001350717.1:c.*574A>C, NM_001350723.2:c.*574A>C, NM_001350723.1:c.*574A>C, NM_001350719.2:c.*574A>C, NM_001350719.1:c.*574A>C, NM_001350721.2:c.*574A>C, NM_001350721.1:c.*574A>C, NM_001350724.2:c.*574A>C, NM_001350724.1:c.*574A>C, NM_001350705.1:c.*574A>C, NM_001350708.1:c.*574A>C, NM_001350715.1:c.*574A>C, NM_001350712.1:c.*574A>C, NM_001350718.1:c.*574A>C, NM_001350720.1:c.*574A>C, XM_011515154.3:c.*574A>C, XM_011515154.2:c.*574A>C, XM_011515154.1:c.*574A>C, NM_004080.2:c.*574A>C, XM_047419929.1:c.*574A>C

Select item 148591799014.

rs1485917990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:14903481 (GRCh38)
7:14943106 (GRCh37)
Canonical SPDI:: NC_000007.14:14903480:C:A,NC_000007.14:14903480:C:T
Gene:: DGKB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.14903481C>A, NC_000007.14:g.14903481C>T, NC_000007.13:g.14943106C>A, NC_000007.13:g.14943106C>T, NG_029494.2:g.76297G>T, NG_029494.2:g.76297G>A, NM_001350705.1:c.-540G>T, NM_001350705.1:c.-540G>A, NM_001350708.1:c.-540G>T, NM_001350708.1:c.-540G>A, NM_001350715.1:c.-540G>T, NM_001350715.1:c.-540G>A, NM_001350712.1:c.-540G>T, NM_001350712.1:c.-540G>A, NM_001350718.1:c.-540G>T, NM_001350718.1:c.-540G>A, NM_001350720.1:c.-540G>T, NM_001350720.1:c.-540G>A, XM_047419930.1:c.-540G>T, XM_047419930.1:c.-540G>A

Select item 148584395915.

rs1485843959 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGTGTG [Show Flanks]
Chromosome:: 7:14903232 (GRCh38)
7:14942858 (GRCh37)
Canonical SPDI:: NC_000007.14:14903232:GTGTG:GTGTGGGTGTG
Gene:: DGKB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGGGTGTG=0./0 (ALFA)
GTGTGG=0.000004/1 (TOPMED)
GTGTGG=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.14903233_14903237GT[2]GGGTGTG[1], NC_000007.13:g.14942858_14942862GT[2]GGGTGTG[1], NG_029494.2:g.76541_76545CA[2]CCCACAC[1], NM_001350705.1:c.-296_-292CA[2]CCCACAC[1], NM_001350708.1:c.-296_-292CA[2]CCCACAC[1], NM_001350715.1:c.-296_-292CA[2]CCCACAC[1], NM_001350712.1:c.-296_-292CA[2]CCCACAC[1], NM_001350718.1:c.-296_-292CA[2]CCCACAC[1], NM_001350720.1:c.-296_-292CA[2]CCCACAC[1], XM_047419930.1:c.-296_-292CA[2]CCCACAC[1]

Select item 148503731916.

rs1485037319 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:14718635 (GRCh38)
7:14758260 (GRCh37)
Canonical SPDI:: NC_000007.14:14718634:C:T
Gene:: DGKB (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.14718635C>T, NC_000007.13:g.14758260C>T, NG_029494.2:g.261143G>A, NM_001350707.2:c.373G>A, NM_001350707.1:c.373G>A, NM_001350706.2:c.373G>A, NM_001350706.1:c.373G>A, NM_001350709.2:c.373G>A, NM_001350709.1:c.373G>A, NM_001350716.2:c.352G>A, NM_001350716.1:c.352G>A, NM_001350711.2:c.352G>A, NM_001350711.1:c.352G>A, NM_001350714.2:c.352G>A, NM_001350714.1:c.352G>A, NM_001350722.2:c.247G>A, NM_001350722.1:c.247G>A, NM_001350717.2:c.373G>A, NM_001350717.1:c.373G>A, NM_001350723.2:c.247G>A, NM_001350723.1:c.247G>A, NM_001350719.2:c.373G>A, NM_001350719.1:c.373G>A, NM_001350721.2:c.352G>A, NM_001350721.1:c.352G>A, NM_001350724.2:c.226G>A, NM_001350724.1:c.226G>A, NM_145695.2:c.373G>A, NM_001350705.1:c.373G>A, NM_001350708.1:c.373G>A, NM_001350715.1:c.352G>A, NM_001350712.1:c.352G>A, NM_001350718.1:c.373G>A, NM_001350720.1:c.352G>A, XM_011515154.3:c.373G>A, XM_011515154.2:c.373G>A, XM_011515154.1:c.373G>A, XM_017011792.3:c.373G>A, XM_017011792.2:c.373G>A, XM_017011792.1:c.373G>A, NM_004080.2:c.373G>A, XM_017011791.2:c.373G>A, XM_017011791.1:c.373G>A, XM_017011790.2:c.373G>A, XM_017011790.1:c.373G>A, XR_001744571.2:n.720G>A, XR_001744571.1:n.926G>A, XM_047419930.1:c.352G>A, NP_001337636.1:p.Ala125Thr, NP_001337635.1:p.Ala125Thr, NP_001337638.1:p.Ala125Thr, NP_001337645.1:p.Ala118Thr, NP_001337640.1:p.Ala118Thr, NP_001337643.1:p.Ala118Thr, NP_001337651.1:p.Ala83Thr, NP_001337646.1:p.Ala125Thr, NP_001337652.1:p.Ala83Thr, NP_001337648.1:p.Ala125Thr, NP_001337650.1:p.Ala118Thr, NP_001337653.1:p.Ala76Thr, NP_663733.1:p.Ala125Thr, NP_001337634.1:p.Ala125Thr, NP_001337637.1:p.Ala125Thr, NP_001337644.1:p.Ala118Thr, NP_001337641.1:p.Ala118Thr, NP_001337647.1:p.Ala125Thr, NP_001337649.1:p.Ala118Thr, XP_011513456.1:p.Ala125Thr, XP_016867281.1:p.Ala125Thr, XP_016867280.1:p.Ala125Thr, XP_016867279.1:p.Ala125Thr, XP_047275886.1:p.Ala118Thr

Select item 148487216917.

rs1484872169 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:14145601 (GRCh38)
7:14185226 (GRCh37)
Canonical SPDI:: NC_000007.14:14145600:G:C
Gene:: DGKB (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.14145601G>C, NC_000007.13:g.14185226G>C, NG_029494.2:g.834177C>G, NM_001350707.2:c.*3530C>G, NM_001350707.1:c.*3530C>G, NM_001350706.2:c.*3530C>G, NM_001350706.1:c.*3530C>G, NM_001350709.2:c.*3530C>G, NM_001350709.1:c.*3530C>G, NM_001350716.2:c.*3530C>G, NM_001350716.1:c.*3530C>G, NM_001350711.2:c.*3530C>G, NM_001350711.1:c.*3530C>G, NM_001350714.2:c.*3530C>G, NM_001350714.1:c.*3530C>G, NM_001350722.2:c.*3530C>G, NM_001350722.1:c.*3530C>G, NM_001350717.2:c.*3530C>G, NM_001350717.1:c.*3530C>G, NM_001350723.2:c.*3530C>G, NM_001350723.1:c.*3530C>G, NM_001350719.2:c.*3530C>G, NM_001350719.1:c.*3530C>G, NM_001350721.2:c.*3530C>G, NM_001350721.1:c.*3530C>G, NM_001350724.2:c.*3530C>G, NM_001350724.1:c.*3530C>G, NM_001350705.1:c.*3530C>G, NM_001350708.1:c.*3530C>G, NM_001350715.1:c.*3530C>G, NM_001350712.1:c.*3530C>G, NM_001350718.1:c.*3530C>G, NM_001350720.1:c.*3530C>G, XM_011515154.3:c.*3530C>G, XM_011515154.1:c.*3530C>G, NM_004080.2:c.*3530C>G, XM_047419929.1:c.*3530C>G

Select item 148383473018.

rs1483834730 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:14338609 (GRCh38)
7:14378234 (GRCh37)
Canonical SPDI:: NC_000007.14:14338608:A:C
Gene:: DGKB (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.14338609A>C, NC_000007.13:g.14378234A>C, NG_029494.2:g.641169T>G, NM_001350707.2:c.2028T>G, NM_001350707.1:c.2028T>G, NM_001350706.2:c.2031T>G, NM_001350706.1:c.2031T>G, NM_001350709.2:c.2028T>G, NM_001350709.1:c.2028T>G, NM_001350716.2:c.2010T>G, NM_001350716.1:c.2010T>G, NM_001350711.2:c.2007T>G, NM_001350711.1:c.2007T>G, NM_001350714.2:c.2007T>G, NM_001350714.1:c.2007T>G, NM_001350722.2:c.1905T>G, NM_001350722.1:c.1905T>G, NM_001350717.2:c.1995T>G, NM_001350717.1:c.1995T>G, NM_001350723.2:c.1905T>G, NM_001350723.1:c.1905T>G, NM_001350719.2:c.1995T>G, NM_001350719.1:c.1995T>G, NM_001350721.2:c.1974T>G, NM_001350721.1:c.1974T>G, NM_001350724.2:c.1881T>G, NM_001350724.1:c.1881T>G, NM_145695.2:c.2031T>G, NM_001350705.1:c.2031T>G, NM_001350708.1:c.2028T>G, NM_001350715.1:c.2010T>G, NM_001350712.1:c.2007T>G, NM_001350718.1:c.1995T>G, NM_001350720.1:c.1974T>G, XM_011515154.3:c.2031T>G, XM_011515154.2:c.2031T>G, XM_011515154.1:c.2031T>G, NM_004080.2:c.2031T>G, XM_017011790.2:c.2031T>G, XM_017011790.1:c.2031T>G, XM_047419929.1:c.1491T>G

Select item 148378609519.

rs1483786095 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:14147925 (GRCh38)
7:14187550 (GRCh37)
Canonical SPDI:: NC_000007.14:14147924:A:G
Gene:: DGKB (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.14147925A>G, NC_000007.13:g.14187550A>G, NG_029494.2:g.831853T>C, NM_001350707.2:c.*1206T>C, NM_001350707.1:c.*1206T>C, NM_001350706.2:c.*1206T>C, NM_001350706.1:c.*1206T>C, NM_001350709.2:c.*1206T>C, NM_001350709.1:c.*1206T>C, NM_001350716.2:c.*1206T>C, NM_001350716.1:c.*1206T>C, NM_001350711.2:c.*1206T>C, NM_001350711.1:c.*1206T>C, NM_001350714.2:c.*1206T>C, NM_001350714.1:c.*1206T>C, NM_001350722.2:c.*1206T>C, NM_001350722.1:c.*1206T>C, NM_001350717.2:c.*1206T>C, NM_001350717.1:c.*1206T>C, NM_001350723.2:c.*1206T>C, NM_001350723.1:c.*1206T>C, NM_001350719.2:c.*1206T>C, NM_001350719.1:c.*1206T>C, NM_001350721.2:c.*1206T>C, NM_001350721.1:c.*1206T>C, NM_001350724.2:c.*1206T>C, NM_001350724.1:c.*1206T>C, NM_001350705.1:c.*1206T>C, NM_001350708.1:c.*1206T>C, NM_001350715.1:c.*1206T>C, NM_001350712.1:c.*1206T>C, NM_001350718.1:c.*1206T>C, NM_001350720.1:c.*1206T>C, XM_011515154.3:c.*1206T>C, XM_011515154.2:c.*1206T>C, XM_011515154.1:c.*1206T>C, NM_004080.2:c.*1206T>C, XM_047419929.1:c.*1206T>C

Select item 148298009620.

rs1482980096 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:14841317 (GRCh38)
7:14880942 (GRCh37)
Canonical SPDI:: NC_000007.14:14841316:G:A
Gene:: DGKB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.14841317G>A, NC_000007.13:g.14880942G>A, NG_029494.2:g.138461C>T, NM_001350707.2:c.-54C>T, NM_001350707.1:c.-54C>T, NM_001350706.2:c.-54C>T, NM_001350706.1:c.-54C>T, NM_001350709.2:c.-54C>T, NM_001350709.1:c.-54C>T, NM_001350716.2:c.-54C>T, NM_001350716.1:c.-54C>T, NM_001350711.2:c.-54C>T, NM_001350711.1:c.-54C>T, NM_001350714.2:c.-54C>T, NM_001350714.1:c.-54C>T, NM_001350722.2:c.-145C>T, NM_001350722.1:c.-145C>T, NM_001350717.2:c.-54C>T, NM_001350717.1:c.-54C>T, NM_001350723.2:c.-145C>T, NM_001350723.1:c.-145C>T, NM_001350719.2:c.-54C>T, NM_001350719.1:c.-54C>T, NM_001350721.2:c.-54C>T, NM_001350721.1:c.-54C>T, NM_001350724.2:c.-145C>T, NM_001350724.1:c.-145C>T, NM_145695.2:c.-54C>T, NM_001350705.1:c.-54C>T, NM_001350708.1:c.-54C>T, NM_001350715.1:c.-54C>T, NM_001350712.1:c.-54C>T, NM_001350718.1:c.-54C>T, NM_001350720.1:c.-54C>T, XM_011515154.3:c.-54C>T, XM_011515154.2:c.-54C>T, XM_011515154.1:c.-54C>T, XM_017011792.3:c.-54C>T, XM_017011792.2:c.-54C>T, XM_017011792.1:c.-54C>T, NM_004080.2:c.-54C>T, XM_017011791.2:c.-54C>T, XM_017011791.1:c.-54C>T, XM_017011790.2:c.-54C>T, XM_017011790.1:c.-54C>T, XR_001744571.2:n.294C>T, XR_001744571.1:n.500C>T, XM_047419930.1:c.-54C>T

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