SNP Links for Gene (Select 10488) - SNP

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Select item 14902639821.

rs1490263982 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:35734252 (GRCh38)
9:35734249 (GRCh37)
Canonical SPDI:: NC_000009.12:35734251:T:A
Gene:: CREB3 (Varview)
Functional Consequence:: intron_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_000009.12:g.35734252T>A, NC_000009.11:g.35734249T>A, NG_046983.1:g.6933T>A

Select item 14899835292.

rs1489983529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:35736038 (GRCh38)
9:35736035 (GRCh37)
Canonical SPDI:: NC_000009.12:35736037:C:T
Gene:: CREB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.35736038C>T, NC_000009.11:g.35736035C>T, NG_033899.1:g.18191G>A, NG_046983.1:g.8719C>T

Select item 14897358173.

rs1489735817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:35732577 (GRCh38)
9:35732574 (GRCh37)
Canonical SPDI:: NC_000009.12:35732576:C:G,NC_000009.12:35732576:C:T
Gene:: TLN1 (Varview), CREB3 (Varview), MIR6853 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.35732577C>G, NC_000009.12:g.35732577C>T, NC_000009.11:g.35732574C>G, NC_000009.11:g.35732574C>T, NG_046983.1:g.5258C>G, NG_046983.1:g.5258C>T, NM_006368.4:c.-196C>G, NM_006368.4:c.-196C>T

Select item 14892080614.

rs1489208061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:35730427 (GRCh38)
9:35730424 (GRCh37)
Canonical SPDI:: NC_000009.12:35730426:G:C
Gene:: TLN1 (Varview)
Functional Consequence:: intron_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_000009.12:g.35730427G>C, NC_000009.11:g.35730424G>C, NG_046983.1:g.3108G>C

Select item 14881420465.

rs1488142046 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 9:35732352 (GRCh38)
9:35732349 (GRCh37)
Canonical SPDI:: NC_000009.12:35732351:C:A,NC_000009.12:35732351:C:G,NC_000009.12:35732351:C:T
Gene:: TLN1 (Varview), CREB3 (Varview), MIR6853 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.35732352C>A, NC_000009.12:g.35732352C>G, NC_000009.12:g.35732352C>T, NC_000009.11:g.35732349C>A, NC_000009.11:g.35732349C>G, NC_000009.11:g.35732349C>T, NG_046983.1:g.5033C>A, NG_046983.1:g.5033C>G, NG_046983.1:g.5033C>T, NM_006368.4:c.-421C>A, NM_006368.4:c.-421C>G, NM_006368.4:c.-421C>T, NM_006289.3:c.-311G>T, NM_006289.3:c.-311G>C, NM_006289.3:c.-311G>A

Select item 14877763216.

rs1487776321 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:35730484 (GRCh38)
9:35730481 (GRCh37)
Canonical SPDI:: NC_000009.12:35730483:G:C
Gene:: TLN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.35730484G>C, NC_000009.11:g.35730481G>C, NG_046983.1:g.3165G>C

Select item 14872602487.

rs1487260248 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:35733026 (GRCh38)
9:35733023 (GRCh37)
Canonical SPDI:: NC_000009.12:35733025:C:T
Gene:: TLN1 (Varview), CREB3 (Varview), MIR6853 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.35733026C>T, NC_000009.11:g.35733023C>T, NG_046983.1:g.5707C>T, NM_006368.5:c.160C>T, NM_006368.4:c.160C>T

Select item 14867459448.

rs1486745944 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:35737006 (GRCh38)
9:35737003 (GRCh37)
Canonical SPDI:: NC_000009.12:35737005:C:T
Gene:: CREB3 (Varview), GBA2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.35737006C>T, NC_000009.11:g.35737003C>T, NG_033899.1:g.17223G>A, NM_020944.3:c.*163G>A, NM_020944.2:c.*163G>A, NM_001330660.2:c.*470G>A, NM_001330660.1:c.*470G>A, NG_046983.1:g.9687C>T, XM_005251526.6:c.*163G>A, XM_005251526.5:c.*163G>A, XM_005251526.4:c.*163G>A, XM_005251526.3:c.*163G>A, XM_005251526.2:c.*163G>A, XM_005251526.1:c.*163G>A, XM_006716809.5:c.*163G>A, XM_006716809.4:c.*163G>A, XM_006716809.3:c.*163G>A, XM_006716809.2:c.*163G>A, XM_006716809.1:c.*163G>A, NM_006368.4:c.*280C>T, XM_017014938.3:c.*470G>A, XM_017014938.2:c.*470G>A, XM_017014938.1:c.*470G>A, XM_017014939.3:c.*470G>A, XM_017014939.2:c.*470G>A, XM_017014939.1:c.*470G>A, XM_017014941.3:c.*470G>A, XM_017014941.2:c.*470G>A, XM_017014937.3:c.*163G>A, XM_017014937.2:c.*163G>A, XM_017014937.1:c.*163G>A, XM_017014940.3:c.*163G>A, XM_017014940.2:c.*163G>A, XM_017014940.1:c.*163G>A, XM_017014942.3:c.*163G>A, XM_017014942.2:c.*163G>A, XM_017014942.1:c.*163G>A, XM_017014943.3:c.*163G>A, XM_017014943.2:c.*163G>A, XM_017014943.1:c.*163G>A, XM_047423612.1:c.*163G>A, XM_017014944.1:c.*163G>A, XM_017014945.1:c.*163G>A

Select item 14865341269.

rs1486534126 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:35735916 (GRCh38)
9:35735913 (GRCh37)
Canonical SPDI:: NC_000009.12:35735915:T:G
Gene:: CREB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.35735916T>G, NC_000009.11:g.35735913T>G, NG_033899.1:g.18313A>C, NG_046983.1:g.8597T>G

Select item 148555404710.

rs1485554047 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:35734683 (GRCh38)
9:35734680 (GRCh37)
Canonical SPDI:: NC_000009.12:35734682:T:A
Gene:: CREB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000009.12:g.35734683T>A, NC_000009.11:g.35734680T>A, NG_046983.1:g.7364T>A

Select item 148552289011.

rs1485522890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:35732147 (GRCh38)
9:35732144 (GRCh37)
Canonical SPDI:: NC_000009.12:35732146:G:A,NC_000009.12:35732146:G:C
Gene:: TLN1 (Varview), CREB3 (Varview), MIR6853 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.35732147G>A, NC_000009.12:g.35732147G>C, NC_000009.11:g.35732144G>A, NC_000009.11:g.35732144G>C, NG_046983.1:g.4828G>A, NG_046983.1:g.4828G>C, NM_006289.4:c.-106C>T, NM_006289.4:c.-106C>G, NM_006289.3:c.-106C>T, NM_006289.3:c.-106C>G

Select item 148533994312.

rs1485339943 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:35736150 (GRCh38)
9:35736147 (GRCh37)
Canonical SPDI:: NC_000009.12:35736149:G:C
Gene:: CREB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.35736150G>C, NC_000009.11:g.35736147G>C, NG_033899.1:g.18079C>G, NG_046983.1:g.8831G>C

Select item 148460453813.

rs1484604538 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:35733540 (GRCh38)
9:35733537 (GRCh37)
Canonical SPDI:: NC_000009.12:35733539:G:A
Gene:: TLN1 (Varview), CREB3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000009.12:g.35733540G>A, NC_000009.11:g.35733537G>A, NG_046983.1:g.6221G>A

Select item 148409083114.

rs1484090831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:35733082 (GRCh38)
9:35733079 (GRCh37)
Canonical SPDI:: NC_000009.12:35733081:C:T
Gene:: TLN1 (Varview), CREB3 (Varview), MIR6853 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,500B_downstream_variant,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)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000009.12:g.35733082C>T, NC_000009.11:g.35733079C>T, NG_046983.1:g.5763C>T, NM_006368.5:c.216C>T, NM_006368.4:c.216C>T

Select item 148401478615.

rs1484014786 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:35732962 (GRCh38)
9:35732959 (GRCh37)
Canonical SPDI:: NC_000009.12:35732961:A:G
Gene:: TLN1 (Varview), CREB3 (Varview), MIR6853 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
HGVS:: NC_000009.12:g.35732962A>G, NC_000009.11:g.35732959A>G, NG_046983.1:g.5643A>G, NR_106912.1:n.41A>G

Select item 148394048916.

rs1483940489 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:35731241 (GRCh38)
9:35731238 (GRCh37)
Canonical SPDI:: NC_000009.12:35731240:C:T
Gene:: TLN1 (Varview), CREB3 (Varview), MIR6853 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_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_000009.12:g.35731241C>T, NC_000009.11:g.35731238C>T, NG_046983.1:g.3922C>T

Select item 148386800317.

rs1483868003 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:35734708 (GRCh38)
9:35734705 (GRCh37)
Canonical SPDI:: NC_000009.12:35734707:C:T
Gene:: CREB3 (Varview)
Functional Consequence:: intron_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_000009.12:g.35734708C>T, NC_000009.11:g.35734705C>T, NG_046983.1:g.7389C>T

Select item 148381637318.

rs1483816373 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:35735757 (GRCh38)
9:35735754 (GRCh37)
Canonical SPDI:: NC_000009.12:35735756:G:A
Gene:: CREB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.35735757G>A, NC_000009.11:g.35735754G>A, NG_033899.1:g.18472C>T, NG_046983.1:g.8438G>A

Select item 148379491519.

rs1483794915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:35732511 (GRCh38)
9:35732508 (GRCh37)
Canonical SPDI:: NC_000009.12:35732510:C:T
Gene:: TLN1 (Varview), CREB3 (Varview), MIR6853 (Varview)
Functional Consequence:: upstream_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_000009.12:g.35732511C>T, NC_000009.11:g.35732508C>T, NG_046983.1:g.5192C>T, NM_006368.4:c.-262C>T

Select item 148347867120.

rs1483478671 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:35736117 (GRCh38)
9:35736114 (GRCh37)
Canonical SPDI:: NC_000009.12:35736116:C:G
Gene:: CREB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000009.12:g.35736117C>G, NC_000009.11:g.35736114C>G, NG_033899.1:g.18112G>C, NG_046983.1:g.8798C>G, NM_006368.5:c.681C>G, NM_006368.4:c.681C>G, NP_006359.3:p.Ser227Arg

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