SNP Links for Gene (Select 101929272) - SNP

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Select item 14912971061.

rs1491297106 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACACACACCC,ACACCC,ACCC [Show Flanks]
Chromosome:: 2:25432243 (GRCh38)
2:25655113 (GRCh37)
Canonical SPDI:: NC_000002.12:25432243:C:CACACACACCC,NC_000002.12:25432243:C:CACACCC,NC_000002.12:25432243:C:CACCC
Gene:: DTNB (Varview), LOC124900608 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CACCC=0./0 (ALFA)
HGVS:: NC_000002.12:g.25432244CA[4]CCC[1], NC_000002.12:g.25432244CA[2]CCC[1], NC_000002.12:g.25432244_25432245insACCC, NC_000002.11:g.25655113CA[4]CCC[1], NC_000002.11:g.25655113CA[2]CCC[1], NC_000002.11:g.25655113_25655114insACCC

Select item 14909425412.

rs1490942541 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTT [Show Flanks]
Chromosome:: 2:25420291 (GRCh38)
2:25643161 (GRCh37)
Canonical SPDI:: NC_000002.12:25420291:T:TTTTT
Gene:: DTNB (Varview), DTNB-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TTTTT=0.00087/14 (ALFA)
HGVS:: NC_000002.12:g.25420292_25420293insTTTT, NC_000002.11:g.25643161_25643162insTTTT

Select item 14909012443.

rs1490901244 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:25431360 (GRCh38)
2:25654229 (GRCh37)
Canonical SPDI:: NC_000002.12:25431359:T:C
Gene:: DTNB (Varview), LOC124900608 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_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_000002.12:g.25431360T>C, NC_000002.11:g.25654229T>C

Select item 14906716824.

rs1490671682 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:25435835 (GRCh38)
2:25658704 (GRCh37)
Canonical SPDI:: NC_000002.12:25435834:A:G
Gene:: DTNB (Varview), LOC124900608 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,non_coding_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_000002.12:g.25435835A>G, NC_000002.11:g.25658704A>G, XR_007086247.1:n.2735A>G

Select item 14903203205.

rs1490320320 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:25421032 (GRCh38)
2:25643902 (GRCh37)
Canonical SPDI:: NC_000002.12:25421032:A:AA
Gene:: DTNB (Varview), DTNB-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.25421033dup, NC_000002.11:g.25643902dup

Select item 14902110816.

rs1490211081 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:25437844 (GRCh38)
2:25660713 (GRCh37)
Canonical SPDI:: NC_000002.12:25437843:T:A,NC_000002.12:25437843:T:C
Gene:: DTNB (Varview), LOC124900608 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.25437844T>A, NC_000002.12:g.25437844T>C, NC_000002.11:g.25660713T>A, NC_000002.11:g.25660713T>C, XR_007086247.1:n.4744T>A, XR_007086247.1:n.4744T>C

Select item 14901887287.

rs1490188728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:25422187 (GRCh38)
2:25645056 (GRCh37)
Canonical SPDI:: NC_000002.12:25422186:G:A
Gene:: DTNB (Varview), DTNB-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000002.12:g.25422187G>A, NC_000002.11:g.25645056G>A

Select item 14901204158.

rs1490120415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:25429357 (GRCh38)
2:25652226 (GRCh37)
Canonical SPDI:: NC_000002.12:25429356:C:T
Gene:: DTNB (Varview)
Functional Consequence:: intron_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_000002.12:g.25429357C>T, NC_000002.11:g.25652226C>T

Select item 14897773169.

rs1489777316 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAT>- [Show Flanks]
Chromosome:: 2:25419911 (GRCh38)
2:25642780 (GRCh37)
Canonical SPDI:: NC_000002.12:25419903:TAATAATAAT:TAATAAT
Gene:: DTNB (Varview), DTNB-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAATAAT=0./0 (ALFA)
-=0.000036/5 (GnomAD)
-=0.000045/12 (TOPMED)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.25419905AAT[2], NC_000002.11:g.25642774AAT[2]

Select item 148971918910.

rs1489719189 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>-
Chromosome:: no mapping
Canonical SPDI:

Select item 148958386411.

rs1489583864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:25427562 (GRCh38)
2:25650431 (GRCh37)
Canonical SPDI:: NC_000002.12:25427561:C:G,NC_000002.12:25427561:C:T
Gene:: DTNB (Varview), DTNB-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.25427562C>G, NC_000002.12:g.25427562C>T, NC_000002.11:g.25650431C>G, NC_000002.11:g.25650431C>T, NM_021907.5:c.1527G>C, NM_021907.5:c.1527G>A, NM_021907.4:c.1527G>C, NM_021907.4:c.1527G>A, NM_033147.4:c.1527G>C, NM_033147.4:c.1527G>A, NM_033147.3:c.1527G>C, NM_033147.3:c.1527G>A, NM_033148.4:c.1437G>C, NM_033148.4:c.1437G>A, NM_033148.3:c.1437G>C, NM_033148.3:c.1437G>A, XR_244976.4:n.300C>G, XR_244976.4:n.300C>T, XR_244976.3:n.301C>G, XR_244976.3:n.301C>T, XR_427012.4:n.210C>G, XR_427012.4:n.210C>T, XR_427012.3:n.230C>G, XR_427012.3:n.230C>T, NM_183360.3:c.1527G>C, NM_183360.3:c.1527G>A, NM_183360.2:c.1527G>C, NM_183360.2:c.1527G>A, NM_001256304.3:c.1527G>C, NM_001256304.3:c.1527G>A, NM_001256304.2:c.1527G>C, NM_001256304.2:c.1527G>A, NM_001256304.1:c.1527G>C, NM_001256304.1:c.1527G>A, NM_183361.3:c.1437G>C, NM_183361.3:c.1437G>A, NM_183361.2:c.1437G>C, NM_183361.2:c.1437G>A, XR_939844.3:n.430C>G, XR_939844.3:n.430C>T, XR_939844.2:n.413C>G, XR_939844.2:n.413C>T, NM_001351395.2:c.612G>C, NM_001351395.2:c.612G>A, NM_001351395.1:c.612G>C, NM_001351395.1:c.612G>A, NM_001351389.2:c.1437G>C, NM_001351389.2:c.1437G>A, NM_001351389.1:c.1437G>C, NM_001351389.1:c.1437G>A, NM_001320936.2:c.1527G>C, NM_001320936.2:c.1527G>A, NM_001320936.1:c.1527G>C, NM_001320936.1:c.1527G>A, NR_147180.2:n.1630G>C, NR_147180.2:n.1630G>A, NR_147180.1:n.1700G>C, NR_147180.1:n.1700G>A, NM_001256303.2:c.1527G>C, NM_001256303.2:c.1527G>A, NM_001256303.1:c.1527G>C, NM_001256303.1:c.1527G>A, NM_001320934.2:c.1437G>C, NM_001320934.2:c.1437G>A, NM_001320934.1:c.1437G>C, NM_001320934.1:c.1437G>A, NM_001320933.2:c.1437G>C, NM_001320933.2:c.1437G>A, NM_001320933.1:c.1437G>C, NM_001320933.1:c.1437G>A, NM_001351387.2:c.1455G>C, NM_001351387.2:c.1455G>A, NM_001351387.1:c.1455G>C, NM_001351387.1:c.1455G>A, NM_001256308.2:c.1356G>C, NM_001256308.2:c.1356G>A, NM_001256308.1:c.1356G>C, NM_001256308.1:c.1356G>A, NM_001351388.2:c.1527G>C, NM_001351388.2:c.1527G>A, NM_001351388.1:c.1527G>C, NM_001351388.1:c.1527G>A, NM_001351382.2:c.1437G>C, NM_001351382.2:c.1437G>A, NM_001351382.1:c.1437G>C, NM_001351382.1:c.1437G>A, NM_001351385.2:c.1455G>C, NM_001351385.2:c.1455G>A, NM_001351385.1:c.1455G>C, NM_001351385.1:c.1455G>A, NM_001351383.2:c.1455G>C, NM_001351383.2:c.1455G>A, NM_001351383.1:c.1455G>C, NM_001351383.1:c.1455G>A, NM_001351386.2:c.1437G>C, NM_001351386.2:c.1437G>A, NM_001351386.1:c.1437G>C, NM_001351386.1:c.1437G>A, NM_001351384.2:c.1527G>C, NM_001351384.2:c.1527G>A, NM_001351384.1:c.1527G>C, NM_001351384.1:c.1527G>A, NM_001351381.2:c.996G>C, NM_001351381.2:c.996G>A, NM_001351381.1:c.996G>C, NM_001351381.1:c.996G>A, NM_001351392.2:c.996G>C, NM_001351392.2:c.996G>A, NM_001351392.1:c.996G>C, NM_001351392.1:c.996G>A, NM_001320932.2:c.915G>C, NM_001320932.2:c.915G>A, NM_001320932.1:c.915G>C, NM_001320932.1:c.915G>A, NM_001351390.2:c.1437G>C, NM_001351390.2:c.1437G>A, NM_001351390.1:c.1437G>C, NM_001351390.1:c.1437G>A, NM_001320935.2:c.915G>C, NM_001320935.2:c.915G>A, NM_001320935.1:c.915G>C, NM_001320935.1:c.915G>A, NM_001351393.2:c.996G>C, NM_001351393.2:c.996G>A, NM_001351393.1:c.996G>C, NM_001351393.1:c.996G>A, NM_001351391.2:c.1437G>C, NM_001351391.2:c.1437G>A, NM_001351391.1:c.1437G>C, NM_001351391.1:c.1437G>A, NM_001351394.2:c.1527G>C, NM_001351394.2:c.1527G>A, NM_001351394.1:c.1527G>C, NM_001351394.1:c.1527G>A, NM_001394686.1:c.1086G>C, NM_001394686.1:c.1086G>A, NP_068707.1:p.Gln509His, NP_149159.2:p.Gln509His, NP_149160.1:p.Gln479His, NP_899204.1:p.Gln509His, NP_001243233.1:p.Gln509His, NP_899205.1:p.Gln479His, NP_001338324.1:p.Gln204His, NP_001338318.1:p.Gln479His, NP_001307865.1:p.Gln509His, NP_001243232.1:p.Gln509His, NP_001307863.1:p.Gln479His, NP_001307862.1:p.Gln479His, NP_001338316.1:p.Gln485His, NP_001243237.1:p.Gln452His, NP_001338317.1:p.Gln509His, NP_001338311.1:p.Gln479His, NP_001338314.1:p.Gln485His, NP_001338312.1:p.Gln485His, NP_001338315.1:p.Gln479His, NP_001338313.1:p.Gln509His, NP_001338310.1:p.Gln332His, NP_001338321.1:p.Gln332His, NP_001307861.1:p.Gln305His, NP_001338319.1:p.Gln479His, NP_001307864.1:p.Gln305His, NP_001338322.1:p.Gln332His, NP_001338320.1:p.Gln479His, NP_001338323.1:p.Gln509His, NP_001381615.1:p.Gln362His

Select item 148954762712.

rs1489547627 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:25419564 (GRCh38)
2:25642433 (GRCh37)
Canonical SPDI:: NC_000002.12:25419563:C:T
Gene:: DTNB (Varview), DTNB-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_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_000002.12:g.25419564C>T, NC_000002.11:g.25642433C>T

Select item 148945306113.

rs1489453061 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:25425694 (GRCh38)
2:25648563 (GRCh37)
Canonical SPDI:: NC_000002.12:25425693:C:T
Gene:: DTNB (Varview), DTNB-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.25425694C>T, NC_000002.11:g.25648563C>T

Select item 148931839514.

rs1489318395 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:25435844 (GRCh38)
2:25658713 (GRCh37)
Canonical SPDI:: NC_000002.12:25435843:T:A
Gene:: DTNB (Varview), LOC124900608 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.25435844T>A, NC_000002.11:g.25658713T>A, XR_007086247.1:n.2744T>A

Select item 148917384815.

rs1489173848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:25426958 (GRCh38)
2:25649827 (GRCh37)
Canonical SPDI:: NC_000002.12:25426957:C:T
Gene:: DTNB (Varview), DTNB-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.25426958C>T, NC_000002.11:g.25649827C>T

Select item 148914417916.

rs1489144179 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:25442089 (GRCh38)
2:25664958 (GRCh37)
Canonical SPDI:: NC_000002.12:25442088:A:G
Gene:: DTNB (Varview), LOC124900608 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_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_000002.12:g.25442089A>G, NC_000002.11:g.25664958A>G

Select item 148897925317.

rs1488979253 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:25433573 (GRCh38)
2:25656442 (GRCh37)
Canonical SPDI:: NC_000002.12:25433572:G:A
Gene:: DTNB (Varview), LOC124900608 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_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_000002.12:g.25433573G>A, NC_000002.11:g.25656442G>A, XR_007086247.1:n.473G>A

Select item 148891458418.

rs1488914584 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:25422369 (GRCh38)
2:25645238 (GRCh37)
Canonical SPDI:: NC_000002.12:25422368:A:C
Gene:: DTNB (Varview), DTNB-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000002.12:g.25422369A>C, NC_000002.11:g.25645238A>C

Select item 148882486119.

rs1488824861 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:25421050 (GRCh38)
2:25643919 (GRCh37)
Canonical SPDI:: NC_000002.12:25421049:G:A
Gene:: DTNB (Varview), DTNB-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.25421050G>A, NC_000002.11:g.25643919G>A

Select item 148861895720.

rs1488618957 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:25434424 (GRCh38)
2:25657293 (GRCh37)
Canonical SPDI:: NC_000002.12:25434423:G:A,NC_000002.12:25434423:G:T
Gene:: DTNB (Varview), LOC124900608 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.00552/87 (TOMMO)
HGVS:: NC_000002.12:g.25434424G>A, NC_000002.12:g.25434424G>T, NC_000002.11:g.25657293G>A, NC_000002.11:g.25657293G>T, XR_007086247.1:n.1324G>A, XR_007086247.1:n.1324G>T

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