SNP Links for Gene (Select 58527) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915734561.

rs1491573456 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:139043741 (GRCh38)
6:139364879 (GRCh37)
Canonical SPDI:: NC_000006.12:139043741:G:GG
Gene:: ABRACL (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.139043742dup, NC_000006.11:g.139364879dup

Select item 14915637382.

rs1491563738 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:139043719 (GRCh38)
6:139364856 (GRCh37)
Canonical SPDI:: NC_000006.12:139043716:CACA:CA
Gene:: ABRACL (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CACA=0./0 (ALFA)
HGVS:: NC_000006.12:g.139043717CA[1], NC_000006.11:g.139364854CA[1]

Select item 14912432773.

rs1491243277 has merged into rs869062507 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 6:139034603 (GRCh38)
6:139355740 (GRCh37)
Canonical SPDI:: NC_000006.12:139034602:TC:
Gene:: ABRACL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000016/2 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.139034603_139034604del, NC_000006.11:g.139355740_139355741del

Select item 14912384234.

rs1491238423 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:139043717 (GRCh38)
6:139364855 (GRCh37)
Canonical SPDI:: NC_000006.12:139043717:A:AA
Gene:: ABRACL (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.0005/14 (TOMMO)
HGVS:: NC_000006.12:g.139043718dup, NC_000006.11:g.139364855dup

Select item 14912258505.

rs1491225850 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:139043743 (GRCh38)
6:139364880 (GRCh37)
Canonical SPDI:: NC_000006.12:139043740:AGAG:AG
Gene:: ABRACL (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000102/14 (GnomAD)
HGVS:: NC_000006.12:g.139043741AG[1], NC_000006.11:g.139364878AG[1]

Select item 14911552366.

rs1491155236 has merged into rs770093258 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT [Show Flanks]
Chromosome:: 6:139041511 (GRCh38)
6:139362648 (GRCh37)
Canonical SPDI:: NC_000006.12:139041493:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000006.12:139041493:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000006.12:139041493:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:139041493:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:139041493:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:139041493:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: ABRACL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
TGTG=0.12457/219 (Korea1K)
HGVS:: NC_000006.12:g.139041495GT[8], NC_000006.12:g.139041495GT[9], NC_000006.12:g.139041495GT[11], NC_000006.12:g.139041495GT[12], NC_000006.12:g.139041495GT[13], NC_000006.12:g.139041495GT[14], NC_000006.11:g.139362632GT[8], NC_000006.11:g.139362632GT[9], NC_000006.11:g.139362632GT[11], NC_000006.11:g.139362632GT[12], NC_000006.11:g.139362632GT[13], NC_000006.11:g.139362632GT[14]

Select item 14910481177.

rs1491048117 has merged into rs1554211122 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATAT>-,AT,ATAT,ATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT [Show Flanks]
Chromosome:: 6:139041463 (GRCh38)
6:139362600 (GRCh37)
Canonical SPDI:: NC_000006.12:139041451:TATATATATATATATATAT:TATATATATAT,NC_000006.12:139041451:TATATATATATATATATAT:TATATATATATAT,NC_000006.12:139041451:TATATATATATATATATAT:TATATATATATATAT,NC_000006.12:139041451:TATATATATATATATATAT:TATATATATATATATAT,NC_000006.12:139041451:TATATATATATATATATAT:TATATATATATATATATATAT,NC_000006.12:139041451:TATATATATATATATATAT:TATATATATATATATATATATAT,NC_000006.12:139041451:TATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000006.12:139041451:TATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000006.12:139041451:TATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000006.12:139041451:TATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000006.12:139041451:TATATATATATATATATAT:TATATATATATATATATATATATATATATATAT
Gene:: ABRACL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATAT=0./0 (ALFA)
HGVS:: NC_000006.12:g.139041453AT[5], NC_000006.12:g.139041453AT[6], NC_000006.12:g.139041453AT[7], NC_000006.12:g.139041453AT[8], NC_000006.12:g.139041453AT[10], NC_000006.12:g.139041453AT[11], NC_000006.12:g.139041453AT[12], NC_000006.12:g.139041453AT[13], NC_000006.12:g.139041453AT[14], NC_000006.12:g.139041453AT[15], NC_000006.12:g.139041453AT[16], NC_000006.11:g.139362590AT[5], NC_000006.11:g.139362590AT[6], NC_000006.11:g.139362590AT[7], NC_000006.11:g.139362590AT[8], NC_000006.11:g.139362590AT[10], NC_000006.11:g.139362590AT[11], NC_000006.11:g.139362590AT[12], NC_000006.11:g.139362590AT[13], NC_000006.11:g.139362590AT[14], NC_000006.11:g.139362590AT[15], NC_000006.11:g.139362590AT[16]

Select item 14909715178.

rs1490971517 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:139040044 (GRCh38)
6:139361181 (GRCh37)
Canonical SPDI:: NC_000006.12:139040043:A:G
Gene:: ABRACL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.139040044A>G, NC_000006.11:g.139361181A>G

Select item 14908974129.

rs1490897412 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:139041445 (GRCh38)
6:139362582 (GRCh37)
Canonical SPDI:: NC_000006.12:139041444:C:A,NC_000006.12:139041444:C:G
Gene:: ABRACL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.00062/1 (Korea1K)
A=0.00067/43 (GnomAD)
HGVS:: NC_000006.12:g.139041445C>A, NC_000006.12:g.139041445C>G, NC_000006.11:g.139362582C>A, NC_000006.11:g.139362582C>G

Select item 149068279210.

rs1490682792 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:139031521 (GRCh38)
6:139352658 (GRCh37)
Canonical SPDI:: NC_000006.12:139031520:A:G
Gene:: ABRACL (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.139031521A>G, NC_000006.11:g.139352658A>G

Select item 149064295011.

rs1490642950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:139035108 (GRCh38)
6:139356245 (GRCh37)
Canonical SPDI:: NC_000006.12:139035107:C:T
Gene:: ABRACL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.139035108C>T, NC_000006.11:g.139356245C>T

Select item 149061733812.

rs1490617338 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:139037730 (GRCh38)
6:139358867 (GRCh37)
Canonical SPDI:: NC_000006.12:139037729:A:G
Gene:: ABRACL (Varview)
Functional Consequence:: intron_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_000006.12:g.139037730A>G, NC_000006.11:g.139358867A>G

Select item 149026379413.

rs1490263794 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:139039917 (GRCh38)
6:139361054 (GRCh37)
Canonical SPDI:: NC_000006.12:139039916:C:T
Gene:: ABRACL (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_000006.12:g.139039917C>T, NC_000006.11:g.139361054C>T

Select item 148996753014.

rs1489967530 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:139042702 (GRCh38)
6:139363839 (GRCh37)
Canonical SPDI:: NC_000006.12:139042701:G:A
Gene:: ABRACL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.139042702G>A, NC_000006.11:g.139363839G>A

Select item 148991937315.

rs1489919373 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:139032733 (GRCh38)
6:139353870 (GRCh37)
Canonical SPDI:: NC_000006.12:139032732:A:G
Gene:: ABRACL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.139032733A>G, NC_000006.11:g.139353870A>G

Select item 148970383116.

rs1489703831 [Homo sapiens]

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

Select item 148965741317.

rs1489657413 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:139038883 (GRCh38)
6:139360020 (GRCh37)
Canonical SPDI:: NC_000006.12:139038882:A:G
Gene:: ABRACL (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.139038883A>G, NC_000006.11:g.139360020A>G

Select item 148948435418.

rs1489484354 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:139035544 (GRCh38)
6:139356681 (GRCh37)
Canonical SPDI:: NC_000006.12:139035543:G:A
Gene:: ABRACL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000079/11 (GnomAD)
HGVS:: NC_000006.12:g.139035544G>A, NC_000006.11:g.139356681G>A

Select item 148902185119.

rs1489021851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:139028759 (GRCh38)
6:139349896 (GRCh37)
Canonical SPDI:: NC_000006.12:139028758:C:T
Gene:: ABRACL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_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_000006.12:g.139028759C>T, NC_000006.11:g.139349896C>T, NM_021243.3:c.-123C>T, NM_021243.2:c.-123C>T

Select item 148900075120.

rs1489000751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:139029479 (GRCh38)
6:139350616 (GRCh37)
Canonical SPDI:: NC_000006.12:139029478:G:T
Gene:: ABRACL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.139029479G>T, NC_000006.11:g.139350616G>T

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity