SNP Links for Gene (Select 100130880) - SNP

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Select item 14896946431.

rs1489694643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:137952854 (GRCh38)
7:137637600 (GRCh37)
Canonical SPDI:: NC_000007.14:137952853:G:A
Gene:: CREB3L2 (Varview), CREB3L2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.137952854G>A, NC_000007.13:g.137637600G>A

Select item 14896158862.

rs1489615886 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:137953425 (GRCh38)
7:137638171 (GRCh37)
Canonical SPDI:: NC_000007.14:137953424:T:C
Gene:: CREB3L2 (Varview), CREB3L2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.137953425T>C, NC_000007.13:g.137638171T>C, NR_161346.1:n.78T>C, NM_001243523.1:c.-44T>C

Select item 14890278733.

rs1489027873 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAACA>- [Show Flanks]
Chromosome:: 7:137953826 (GRCh38)
7:137638572 (GRCh37)
Canonical SPDI:: NC_000007.14:137953824:AAAACA:A
Gene:: CREB3L2 (Varview), CREB3L2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.137953826_137953830del, NC_000007.13:g.137638572_137638576del

Select item 14890055784.

rs1489005578 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:137953634 (GRCh38)
7:137638380 (GRCh37)
Canonical SPDI:: NC_000007.14:137953633:T:C
Gene:: CREB3L2 (Varview), CREB3L2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_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_000007.14:g.137953634T>C, NC_000007.13:g.137638380T>C

Select item 14888048055.

rs1488804805 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:137954337 (GRCh38)
7:137639083 (GRCh37)
Canonical SPDI:: NC_000007.14:137954336:A:G
Gene:: CREB3L2 (Varview), CREB3L2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.137954337A>G, NC_000007.13:g.137639083A>G

Select item 14884320666.

rs1488432066 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:137951971 (GRCh38)
7:137636717 (GRCh37)
Canonical SPDI:: NC_000007.14:137951970:C:T
Gene:: CREB3L2 (Varview), CREB3L2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_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.137951971C>T, NC_000007.13:g.137636717C>T

Select item 14883130207.

rs1488313020 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:137955220 (GRCh38)
7:137639966 (GRCh37)
Canonical SPDI:: NC_000007.14:137955219:A:G
Gene:: CREB3L2 (Varview), CREB3L2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.137955220A>G, NC_000007.13:g.137639966A>G

Select item 14881967018.

rs1488196701 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:137953339 (GRCh38)
7:137638085 (GRCh37)
Canonical SPDI:: NC_000007.14:137953338:A:G
Gene:: CREB3L2 (Varview), CREB3L2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.137953339A>G, NC_000007.13:g.137638085A>G

Select item 14881490379.

rs1488149037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:137955407 (GRCh38)
7:137640153 (GRCh37)
Canonical SPDI:: NC_000007.14:137955406:C:T
Gene:: CREB3L2 (Varview), CREB3L2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.137955407C>T, NC_000007.13:g.137640153C>T

Select item 148743098010.

rs1487430980 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:137954931 (GRCh38)
7:137639677 (GRCh37)
Canonical SPDI:: NC_000007.14:137954930:T:A
Gene:: CREB3L2 (Varview), CREB3L2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_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_000007.14:g.137954931T>A, NC_000007.13:g.137639677T>A

Select item 148716589211.

rs1487165892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:137951729 (GRCh38)
7:137636475 (GRCh37)
Canonical SPDI:: NC_000007.14:137951728:C:A
Gene:: CREB3L2 (Varview), CREB3L2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.137951729C>A, NC_000007.13:g.137636475C>A

Select item 148676073712.

rs1486760737 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:137956039 (GRCh38)
7:137640785 (GRCh37)
Canonical SPDI:: NC_000007.14:137956038:G:A
Gene:: CREB3L2 (Varview), CREB3L2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.137956039G>A, NC_000007.13:g.137640785G>A

Select item 148675077113.

rs1486750771 [Homo sapiens]

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

Select item 148493533214.

rs1484935332 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:137957582 (GRCh38)
7:137642328 (GRCh37)
Canonical SPDI:: NC_000007.14:137957581:T:G
Gene:: CREB3L2 (Varview), CREB3L2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.137957582T>G, NC_000007.13:g.137642328T>G

Select item 148492279215.

rs1484922792 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:137955608 (GRCh38)
7:137640354 (GRCh37)
Canonical SPDI:: NC_000007.14:137955607:T:C
Gene:: CREB3L2 (Varview), CREB3L2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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_000007.14:g.137955608T>C, NC_000007.13:g.137640354T>C

Select item 148349221516.

rs1483492215 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:137957035 (GRCh38)
7:137641781 (GRCh37)
Canonical SPDI:: NC_000007.14:137957034:T:C
Gene:: CREB3L2 (Varview), CREB3L2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.137957035T>C, NC_000007.13:g.137641781T>C

Select item 148344357717.

rs1483443577 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:137955339 (GRCh38)
7:137640085 (GRCh37)
Canonical SPDI:: NC_000007.14:137955338:A:G
Gene:: CREB3L2 (Varview), CREB3L2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.137955339A>G, NC_000007.13:g.137640085A>G

Select item 148269113818.

rs1482691138 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:137955838 (GRCh38)
7:137640584 (GRCh37)
Canonical SPDI:: NC_000007.14:137955837:T:C
Gene:: CREB3L2 (Varview), CREB3L2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.137955838T>C, NC_000007.13:g.137640584T>C

Select item 148221784419.

rs1482217844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:137956611 (GRCh38)
7:137641357 (GRCh37)
Canonical SPDI:: NC_000007.14:137956610:C:T
Gene:: CREB3L2 (Varview), CREB3L2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.137956611C>T, NC_000007.13:g.137641357C>T, NR_161346.1:n.294C>T, NM_001243523.1:c.173C>T

Select item 148178965120.

rs1481789651 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:137951444 (GRCh38)
7:137636190 (GRCh37)
Canonical SPDI:: NC_000007.14:137951443:T:C
Gene:: CREB3L2 (Varview), CREB3L2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.137951444T>C, NC_000007.13:g.137636190T>C

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