SNP Links for Gene (Select 1361) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915734871.

rs1491573487 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TAAA
Chromosome:: no mapping
Canonical SPDI:

Select item 14915476112.

rs1491547611 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:46079535 (GRCh38)
13:46653670 (GRCh37)
Canonical SPDI:: NC_000013.11:46079534:CA:
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01433/170 (ALFA)
-=0.0017/27 (TOMMO)
-=0.02495/174 (GnomAD)
HGVS:: NC_000013.11:g.46079535_46079536del, NC_000013.10:g.46653670_46653671del, NG_032893.2:g.30498_30499del

Select item 14914872293.

rs1491487229 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:46065626 (GRCh38)
13:46639761 (GRCh37)
Canonical SPDI:: NC_000013.11:46065625:CA:
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00464/55 (ALFA)
-=0.00176/49 (TOMMO)
HGVS:: NC_000013.11:g.46065626_46065627del, NC_000013.10:g.46639761_46639762del, NG_032893.2:g.44407_44408del

Select item 14913196294.

rs1491319629 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 13:46062025 (GRCh38)
13:46636160 (GRCh37)
Canonical SPDI:: NC_000013.11:46062024:GT:
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00005/4 (GnomAD)
HGVS:: NC_000013.11:g.46062025_46062026del, NC_000013.10:g.46636160_46636161del, NG_032893.2:g.48008_48009del

Select item 14911609805.

rs1491160980 has merged into rs10624204 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:46102551 (GRCh38)
13:46676686 (GRCh37)
Canonical SPDI:: NC_000013.11:46102540:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:46102540:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:46102540:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:46102540:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:46102540:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:46102540:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:46102540:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:46102540:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:46102540:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:46102540:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:46102540:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:46102540:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:46102540:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:46102540:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:46102540:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:46102540:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:46102540:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:46102540:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:46102540:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:46102540:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:46102540:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CPB2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000013.11:g.46102551_46102557del, NC_000013.11:g.46102552_46102557del, NC_000013.11:g.46102553_46102557del, NC_000013.11:g.46102554_46102557del, NC_000013.11:g.46102555_46102557del, NC_000013.11:g.46102556_46102557del, NC_000013.11:g.46102557del, NC_000013.11:g.46102557dup, NC_000013.11:g.46102556_46102557dup, NC_000013.11:g.46102555_46102557dup, NC_000013.11:g.46102554_46102557dup, NC_000013.11:g.46102553_46102557dup, NC_000013.11:g.46102552_46102557dup, NC_000013.11:g.46102551_46102557dup, NC_000013.11:g.46102550_46102557dup, NC_000013.11:g.46102549_46102557dup, NC_000013.11:g.46102548_46102557dup, NC_000013.11:g.46102547_46102557dup, NC_000013.11:g.46102546_46102557dup, NC_000013.11:g.46102545_46102557dup, NC_000013.11:g.46102557_46102558insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.46676686_46676692del, NC_000013.10:g.46676687_46676692del, NC_000013.10:g.46676688_46676692del, NC_000013.10:g.46676689_46676692del, NC_000013.10:g.46676690_46676692del, NC_000013.10:g.46676691_46676692del, NC_000013.10:g.46676692del, NC_000013.10:g.46676692dup, NC_000013.10:g.46676691_46676692dup, NC_000013.10:g.46676690_46676692dup, NC_000013.10:g.46676689_46676692dup, NC_000013.10:g.46676688_46676692dup, NC_000013.10:g.46676687_46676692dup, NC_000013.10:g.46676686_46676692dup, NC_000013.10:g.46676685_46676692dup, NC_000013.10:g.46676684_46676692dup, NC_000013.10:g.46676683_46676692dup, NC_000013.10:g.46676682_46676692dup, NC_000013.10:g.46676681_46676692dup, NC_000013.10:g.46676680_46676692dup, NC_000013.10:g.46676692_46676693insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032893.2:g.7487_7493del, NG_032893.2:g.7488_7493del, NG_032893.2:g.7489_7493del, NG_032893.2:g.7490_7493del, NG_032893.2:g.7491_7493del, NG_032893.2:g.7492_7493del, NG_032893.2:g.7493del, NG_032893.2:g.7493dup, NG_032893.2:g.7492_7493dup, NG_032893.2:g.7491_7493dup, NG_032893.2:g.7490_7493dup, NG_032893.2:g.7489_7493dup, NG_032893.2:g.7488_7493dup, NG_032893.2:g.7487_7493dup, NG_032893.2:g.7486_7493dup, NG_032893.2:g.7485_7493dup, NG_032893.2:g.7484_7493dup, NG_032893.2:g.7483_7493dup, NG_032893.2:g.7482_7493dup, NG_032893.2:g.7481_7493dup, NG_032893.2:g.7493_7494insTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14911461696.

rs1491146169 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:46080971 (GRCh38)
13:46655106 (GRCh37)
Canonical SPDI:: NC_000013.11:46080970:CA:
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000013.11:g.46080971_46080972del, NC_000013.10:g.46655106_46655107del, NG_032893.2:g.29062_29063del

Select item 14911282267.

rs1491128226 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 13:46102558 (GRCh38)
13:46676693 (GRCh37)
Canonical SPDI:: NC_000013.11:46102556:ACA:A,NC_000013.11:46102556:ACA:ACACA
Gene:: CPB2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACACA=0./0 (ALFA)
AC=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.46102558_46102559del, NC_000013.11:g.46102558_46102559dup, NC_000013.10:g.46676693_46676694del, NC_000013.10:g.46676693_46676694dup, NG_032893.2:g.7476_7477del, NG_032893.2:g.7476_7477dup

Select item 14910956088.

rs1491095608 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GAAAAAAAAAAAAAAAA
Chromosome:: no mapping
Canonical SPDI:

Select item 14910671749.

rs1491067174 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 13:46079556 (GRCh38)
13:46653691 (GRCh37)
Canonical SPDI:: NC_000013.11:46079554:AGA:A
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000013.11:g.46079556_46079557del, NC_000013.10:g.46653691_46653692del, NG_032893.2:g.30478_30479del

Select item 149097571910.

rs1490975719 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTA>- [Show Flanks]
Chromosome:: 13:46061120 (GRCh38)
13:46635255 (GRCh37)
Canonical SPDI:: NC_000013.11:46061114:TAGTAGTA:TAGTA
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TAGTA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.46061117GTA[1], NC_000013.10:g.46635252GTA[1], NG_032893.2:g.48914CTA[1]

Select item 149073957911.

rs1490739579 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:46086661 (GRCh38)
13:46660796 (GRCh37)
Canonical SPDI:: NC_000013.11:46086660:G:A
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.46086661G>A, NC_000013.10:g.46660796G>A, NG_032893.2:g.23373C>T

Select item 149071909812.

rs1490719098 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:46070086 (GRCh38)
13:46644221 (GRCh37)
Canonical SPDI:: NC_000013.11:46070085:T:C
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.46070086T>C, NC_000013.10:g.46644221T>C, NG_032893.2:g.39948A>G

Select item 149070257513.

rs1490702575 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 13:46069771 (GRCh38)
13:46643906 (GRCh37)
Canonical SPDI:: NC_000013.11:46069770:TTTTT:TTTT
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.46069775del, NC_000013.10:g.46643910del, NG_032893.2:g.40263del

Select item 149067985214.

rs1490679852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:46105949 (GRCh38)
13:46680084 (GRCh37)
Canonical SPDI:: NC_000013.11:46105948:C:T
Gene:: CPB2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
HGVS:: NC_000013.11:g.46105949C>T, NC_000013.10:g.46680084C>T, NG_032893.2:g.4085G>A

Select item 149046806415.

rs1490468064 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:46069365 (GRCh38)
13:46643500 (GRCh37)
Canonical SPDI:: NC_000013.11:46069364:A:G
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000013.11:g.46069365A>G, NC_000013.10:g.46643500A>G, NG_032893.2:g.40669T>C

Select item 149041600816.

rs1490416008 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:46090203 (GRCh38)
13:46664338 (GRCh37)
Canonical SPDI:: NC_000013.11:46090202:A:G
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000013.11:g.46090203A>G, NC_000013.10:g.46664338A>G, NG_032893.2:g.19831T>C

Select item 149030862917.

rs1490308629 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:46069971 (GRCh38)
13:46644106 (GRCh37)
Canonical SPDI:: NC_000013.11:46069970:T:C
Gene:: CPB2 (Varview), CPB2-AS1 (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_000013.11:g.46069971T>C, NC_000013.10:g.46644106T>C, NG_032893.2:g.40063A>G

Select item 149029051818.

rs1490290518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:46053443 (GRCh38)
13:46627578 (GRCh37)
Canonical SPDI:: NC_000013.11:46053442:G:A
Gene:: CPB2 (Varview), ZC3H13 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_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_000013.11:g.46053443G>A, NC_000013.10:g.46627578G>A, NG_032893.2:g.56591C>T, NM_001872.5:c.*171C>T, NM_001872.4:c.*171C>T, NM_001278541.2:c.*171C>T, NM_001278541.1:c.*171C>T, XM_017020393.3:c.*171C>T, XM_017020393.2:c.*171C>T, XM_017020393.1:c.*171C>T, NM_016413.3:c.*197C>T, NM_016413.2:c.*197C>T, NM_016413.1:c.*197C>T

Select item 149024114219.

rs1490241142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:46084292 (GRCh38)
13:46658427 (GRCh37)
Canonical SPDI:: NC_000013.11:46084291:C:T
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000013.11:g.46084292C>T, NC_000013.10:g.46658427C>T, NG_032893.2:g.25742G>A, NM_001872.5:c.202G>A, NM_001872.4:c.202G>A, NM_001278541.2:c.202G>A, NM_001278541.1:c.202G>A, XM_017020393.3:c.175G>A, XM_017020393.2:c.175G>A, XM_017020393.1:c.175G>A, NM_016413.3:c.202G>A, NM_016413.2:c.202G>A, NM_016413.1:c.202G>A, NP_001863.3:p.Val68Ile, NP_001265470.1:p.Val68Ile, XP_016875882.1:p.Val59Ile

Select item 149017247820.

rs1490172478 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:46083331 (GRCh38)
13:46657466 (GRCh37)
Canonical SPDI:: NC_000013.11:46083330:A:G
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000013.11:g.46083331A>G, NC_000013.10:g.46657466A>G, NG_032893.2:g.26703T>C

<< First< Prev

Page of 50

Next >Last >>

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