SNP Links for Gene (Select 1081) - SNP

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Select item 14913028321.

rs1491302832 has merged into rs144191580 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:87088238 (GRCh38)
6:87797956 (GRCh37)
Canonical SPDI:: NC_000006.12:87088236:ACA:A
Gene:: CGA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.08616/1022 (ALFA)
-=0.03326/2280 (GnomAD_exomes)
-=0.0418/698 (TOMMO)
-=0.07226/585 (ExAC)
-=0.09846/179 (Korea1K)
-=0.21412/12084 (GnomAD)
-=0.32288/1617 (1000Genomes)
HGVS:: NC_000006.12:g.87088238_87088239del, NC_000006.11:g.87797956_87797957del

Select item 14911004592.

rs1491100459 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:87088224 (GRCh38)
6:87797942 (GRCh37)
Canonical SPDI:: NC_000006.12:87088223:CA:
Gene:: CGA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00295/35 (ALFA)
HGVS:: NC_000006.12:g.87088224_87088225del, NC_000006.11:g.87797942_87797943del

Select item 14910843863.

rs1491084386 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA [Show Flanks]
Chromosome:: 6:87088243 (GRCh38)
6:87797961 (GRCh37)
Canonical SPDI:: NC_000006.12:87088238:AAAAAA:AAAA,NC_000006.12:87088238:AAAAAA:AAAAAAA
Gene:: CGA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.87088243_87088244del, NC_000006.12:g.87088244dup, NC_000006.11:g.87797961_87797962del, NC_000006.11:g.87797962dup

Select item 14906948174.

rs1490694817 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:87092608 (GRCh38)
6:87802326 (GRCh37)
Canonical SPDI:: NC_000006.12:87092607:A:T
Gene:: CGA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.87092608A>T, NC_000006.11:g.87802326A>T

Select item 14906442155.

rs1490644215 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:87091715 (GRCh38)
6:87801433 (GRCh37)
Canonical SPDI:: NC_000006.12:87091714:T:C
Gene:: CGA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.87091715T>C, NC_000006.11:g.87801433T>C

Select item 14901544406.

rs1490154440 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:87091168 (GRCh38)
6:87800887 (GRCh37)
Canonical SPDI:: NC_000006.12:87091168:TTT:TTTT
Gene:: CGA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.87091171dup, NC_000006.11:g.87800889dup

Select item 14898129027.

rs1489812902 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:87096764 (GRCh38)
6:87806482 (GRCh37)
Canonical SPDI:: NC_000006.12:87096763:T:A
Gene:: CGA (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000425/7 (TOMMO)
HGVS:: NC_000006.12:g.87096764T>A, NC_000006.11:g.87806482T>A

Select item 14896565498.

rs1489656549 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:87087010 (GRCh38)
6:87796728 (GRCh37)
Canonical SPDI:: NC_000006.12:87087009:C:T
Gene:: CGA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000042/11 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000006.12:g.87087010C>T, NC_000006.11:g.87796728C>T

Select item 14896403309.

rs1489640330 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>- [Show Flanks]
Chromosome:: 6:87085820 (GRCh38)
6:87795538 (GRCh37)
Canonical SPDI:: NC_000006.12:87085816:CCCCCC:CCC
Gene:: CGA (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.87085820_87085822del, NC_000006.11:g.87795538_87795540del, NM_000735.4:c.288_290del, NM_000735.3:c.288_290del, NM_001252383.2:c.381_383del, NM_001252383.1:c.381_383del, NP_000726.1:p.Gly97del, NP_001239312.1:p.Gly128del

Select item 148935738110.

rs1489357381 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:87094867 (GRCh38)
6:87804585 (GRCh37)
Canonical SPDI:: NC_000006.12:87094866:T:G
Gene:: CGA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.87094867T>G, NC_000006.11:g.87804585T>G

Select item 148930265911.

rs1489302659 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:87085434 (GRCh38)
6:87795152 (GRCh37)
Canonical SPDI:: NC_000006.12:87085433:T:C
Gene:: CGA (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.87085434T>C, NC_000006.11:g.87795152T>C

Select item 148928598812.

rs1489285988 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:87093597 (GRCh38)
6:87803315 (GRCh37)
Canonical SPDI:: NC_000006.12:87093596:T:C,NC_000006.12:87093596:T:G
Gene:: CGA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.87093597T>C, NC_000006.12:g.87093597T>G, NC_000006.11:g.87803315T>C, NC_000006.11:g.87803315T>G

Select item 148903573513.

rs1489035735 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:87089511 (GRCh38)
6:87799229 (GRCh37)
Canonical SPDI:: NC_000006.12:87089510:T:G
Gene:: CGA (Varview)
Functional Consequence:: intron_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_000006.12:g.87089511T>G, NC_000006.11:g.87799229T>G

Select item 148888305714.

rs1488883057 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 6:87086749 (GRCh38)
6:87796467 (GRCh37)
Canonical SPDI:: NC_000006.12:87086748:G:
Gene:: CGA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.87086749del, NC_000006.11:g.87796467del

Select item 148760072115.

rs1487600721 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:87088610 (GRCh38)
6:87798328 (GRCh37)
Canonical SPDI:: NC_000006.12:87088609:T:G
Gene:: CGA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.87088610T>G, NC_000006.11:g.87798328T>G

Select item 148758608416.

rs1487586084 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:87092104 (GRCh38)
6:87801822 (GRCh37)
Canonical SPDI:: NC_000006.12:87092103:A:T
Gene:: CGA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.87092104A>T, NC_000006.11:g.87801822A>T

Select item 148757103317.

rs1487571033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:87089738 (GRCh38)
6:87799456 (GRCh37)
Canonical SPDI:: NC_000006.12:87089737:G:A
Gene:: CGA (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_000006.12:g.87089738G>A, NC_000006.11:g.87799456G>A

Select item 148750935118.

rs1487509351 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:87096943 (GRCh38)
6:87806661 (GRCh37)
Canonical SPDI:: NC_000006.12:87096941:AAA:A
Gene:: CGA (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.87096943_87096944del, NC_000006.11:g.87806661_87806662del

Select item 148743242019.

rs1487432420 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:87094573 (GRCh38)
6:87804291 (GRCh37)
Canonical SPDI:: NC_000006.12:87094572:T:C
Gene:: CGA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.87094573T>C, NC_000006.11:g.87804291T>C

Select item 148617975820.

rs1486179758 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:87097096 (GRCh38)
6:87806814 (GRCh37)
Canonical SPDI:: NC_000006.12:87097095:A:G
Gene:: CGA (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.87097096A>G, NC_000006.11:g.87806814A>G

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