SNP Links for Gene (Select 257236) - SNP

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Links from Gene

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Select item 14904964591.

rs1490496459 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:7041257 (GRCh38)
4:7042984 (GRCh37)
Canonical SPDI:: NC_000004.12:7041256:T:C
Gene:: CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.7041257T>C, NC_000004.11:g.7042984T>C, NM_153376.3:c.*14A>G, NM_153376.2:c.*14A>G

Select item 14904289522.

rs1490428952 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:7041322 (GRCh38)
4:7043049 (GRCh37)
Canonical SPDI:: NC_000004.12:7041321:G:A
Gene:: CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.7041322G>A, NC_000004.11:g.7043049G>A, NM_153376.3:c.1617C>T, NM_153376.2:c.1617C>T

Select item 14895337443.

rs1489533744 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:7042747 (GRCh38)
4:7044474 (GRCh37)
Canonical SPDI:: NC_000004.12:7042746:G:A
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.7042747G>A, NC_000004.11:g.7044474G>A, NM_153376.3:c.192C>T, NM_153376.2:c.192C>T

Select item 14894728134.

rs1489472813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:7043057 (GRCh38)
4:7044784 (GRCh37)
Canonical SPDI:: NC_000004.12:7043056:G:T
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.7043057G>T, NC_000004.11:g.7044784G>T

Select item 14886192895.

rs1488619289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:7043019 (GRCh38)
4:7044746 (GRCh37)
Canonical SPDI:: NC_000004.12:7043018:G:A
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.7043019G>A, NC_000004.11:g.7044746G>A

Select item 14885686436.

rs1488568643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:7043520 (GRCh38)
4:7045247 (GRCh37)
Canonical SPDI:: NC_000004.12:7043519:C:G
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000016/2 (GnomAD)
HGVS:: NC_000004.12:g.7043520C>G, NC_000004.11:g.7045247C>G, NM_152293.3:c.-60C>G, NM_152293.2:c.-60C>G

Select item 14884968417.

rs1488496841 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 4:7041306 (GRCh38)
4:7043033 (GRCh37)
Canonical SPDI:: NC_000004.12:7041302:TCTTCT:TCT
Gene:: CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: intron_variant,inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.7041303TCT[1], NC_000004.11:g.7043030TCT[1], NM_153376.3:c.1631AGA[1], NM_153376.2:c.1631AGA[1], NP_699207.1:p.Lys545del

Select item 14879534398.

rs1487953439 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:7040501 (GRCh38)
4:7042228 (GRCh37)
Canonical SPDI:: NC_000004.12:7040500:C:G
Gene:: CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.7040501C>G, NC_000004.11:g.7042228C>G

Select item 14879312079.

rs1487931207 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:7040511 (GRCh38)
4:7042238 (GRCh37)
Canonical SPDI:: NC_000004.12:7040510:C:A,NC_000004.12:7040510:C:T
Gene:: CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000026/7 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.7040511C>A, NC_000004.12:g.7040511C>T, NC_000004.11:g.7042238C>A, NC_000004.11:g.7042238C>T

Select item 148657735910.

rs1486577359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:7041394 (GRCh38)
4:7043121 (GRCh37)
Canonical SPDI:: NC_000004.12:7041393:C:T
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,intron_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.7041394C>T, NC_000004.11:g.7043121C>T, NM_153376.3:c.1545G>A, NM_153376.2:c.1545G>A

Select item 148616560011.

rs1486165600 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:7044229 (GRCh38)
4:7045956 (GRCh37)
Canonical SPDI:: NC_000004.12:7044228:C:T
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.7044229C>T, NC_000004.11:g.7045956C>T

Select item 148602522612.

rs1486025226 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:7044761 (GRCh38)
4:7046488 (GRCh37)
Canonical SPDI:: NC_000004.12:7044760:T:G
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.7044761T>G, NC_000004.11:g.7046488T>G

Select item 148509794213.

rs1485097942 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:7044235 (GRCh38)
4:7045962 (GRCh37)
Canonical SPDI:: NC_000004.12:7044234:G:A
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.7044235G>A, NC_000004.11:g.7045962G>A

Select item 148399903414.

rs1483999034 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:7042239 (GRCh38)
4:7043966 (GRCh37)
Canonical SPDI:: NC_000004.12:7042238:A:T
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.7042239A>T, NC_000004.11:g.7043966A>T, NM_153376.3:c.700T>A, NM_153376.2:c.700T>A, NP_699207.1:p.Ser234Thr

Select item 148388629815.

rs1483886298 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:7043105 (GRCh38)
4:7044832 (GRCh37)
Canonical SPDI:: NC_000004.12:7043104:C:G
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.7043105C>G, NC_000004.11:g.7044832C>G

Select item 148304934716.

rs1483049347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:7042666 (GRCh38)
4:7044393 (GRCh37)
Canonical SPDI:: NC_000004.12:7042665:G:A,NC_000004.12:7042665:G:T
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,intron_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.7042666G>A, NC_000004.12:g.7042666G>T, NC_000004.11:g.7044393G>A, NC_000004.11:g.7044393G>T, NM_153376.3:c.273C>T, NM_153376.3:c.273C>A, NM_153376.2:c.273C>T, NM_153376.2:c.273C>A

Select item 148300889617.

rs1483008896 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:7043257 (GRCh38)
4:7044984 (GRCh37)
Canonical SPDI:: NC_000004.12:7043256:G:A,NC_000004.12:7043256:G:T
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.7043257G>A, NC_000004.12:g.7043257G>T, NC_000004.11:g.7044984G>A, NC_000004.11:g.7044984G>T

Select item 148255791918.

rs1482557919 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:7041925 (GRCh38)
4:7043652 (GRCh37)
Canonical SPDI:: NC_000004.12:7041924:C:G
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,intron_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.7041925C>G, NC_000004.11:g.7043652C>G, NM_153376.3:c.1014G>C, NM_153376.2:c.1014G>C

Select item 148242591819.

rs1482425918 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 4:7042534 (GRCh38)
4:7044261 (GRCh37)
Canonical SPDI:: NC_000004.12:7042533:CCCC:CCC
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,intron_variant,frameshift_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.7042537del, NC_000004.11:g.7044264del, NM_153376.3:c.405del, NM_153376.2:c.405del, NP_699207.1:p.Lys136fs

Select item 148202589320.

rs1482025893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:7043452 (GRCh38)
4:7045179 (GRCh37)
Canonical SPDI:: NC_000004.12:7043451:C:G
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.7043452C>G, NC_000004.11:g.7045179C>G, NM_152293.3:c.-128C>G, NM_152293.2:c.-128C>G