SNP Links for Gene (Select 11196) - SNP

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Select item 14915492811.

rs1491549281 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:119936543 (GRCh38)
10:121696055 (GRCh37)
Canonical SPDI:: NC_000010.11:119936542:CA:
Gene:: SEC23IP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
-=0.00166/47 (TOMMO)
HGVS:: NC_000010.11:g.119936543_119936544del, NC_000010.10:g.121696055_121696056del

Select item 14914456122.

rs1491445612 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:119931271 (GRCh38)
10:121690783 (GRCh37)
Canonical SPDI:: NC_000010.11:119931270:CA:
Gene:: SEC23IP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.119931271_119931272del, NC_000010.10:g.121690783_121690784del

Select item 14914288983.

rs1491428898 has merged into rs3981101 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA [Show Flanks]
Chromosome:: 10:119942352 (GRCh38)
10:121701864 (GRCh37)
Canonical SPDI:: NC_000010.11:119942344:ACACACACACA:ACACACA,NC_000010.11:119942344:ACACACACACA:ACACACACA,NC_000010.11:119942344:ACACACACACA:ACACACACACACA,NC_000010.11:119942344:ACACACACACA:ACACACACACACACA
Gene:: SEC23IP (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACA=0./0 (ALFA)
-=0.000045/12 (TOPMED)
AC=0.06/36 (NorthernSweden)
AC=0.101038/506 (1000Genomes)
AC=0.191048/350 (Korea1K)
HGVS:: NC_000010.11:g.119942346CA[3], NC_000010.11:g.119942346CA[4], NC_000010.11:g.119942346CA[6], NC_000010.11:g.119942346CA[7], NC_000010.10:g.121701858CA[3], NC_000010.10:g.121701858CA[4], NC_000010.10:g.121701858CA[6], NC_000010.10:g.121701858CA[7], NM_007190.4:c.*1781CA[3], NM_007190.4:c.*1781CA[4], NM_007190.4:c.*1781CA[6], NM_007190.4:c.*1781CA[7], NM_007190.3:c.*1781CA[3], NM_007190.3:c.*1781CA[4], NM_007190.3:c.*1781CA[6], NM_007190.3:c.*1781CA[7], XM_005269469.4:c.*1781CA[3], XM_005269469.4:c.*1781CA[4], XM_005269469.4:c.*1781CA[6], XM_005269469.4:c.*1781CA[7], NR_037771.2:n.4304CA[3], NR_037771.2:n.4304CA[4], NR_037771.2:n.4304CA[6], NR_037771.2:n.4304CA[7], NR_037771.1:n.4461CA[3], NR_037771.1:n.4461CA[4], NR_037771.1:n.4461CA[6], NR_037771.1:n.4461CA[7], NM_001411070.1:c.*1781CA[3], NM_001411070.1:c.*1781CA[4], NM_001411070.1:c.*1781CA[6], NM_001411070.1:c.*1781CA[7]

Select item 14912535394.

rs1491253539 has merged into rs71019733 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:119931279 (GRCh38)
10:121690791 (GRCh37)
Canonical SPDI:: NC_000010.11:119931271:AAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000010.11:119931271:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:119931271:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:119931271:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:119931271:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:119931271:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:119931271:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:119931271:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:119931271:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: SEC23IP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.119931279_119931289del, NC_000010.11:g.119931283_119931289del, NC_000010.11:g.119931284_119931289del, NC_000010.11:g.119931286_119931289del, NC_000010.11:g.119931287_119931289del, NC_000010.11:g.119931288_119931289del, NC_000010.11:g.119931289del, NC_000010.11:g.119931289dup, NC_000010.11:g.119931288_119931289dup, NC_000010.10:g.121690791_121690801del, NC_000010.10:g.121690795_121690801del, NC_000010.10:g.121690796_121690801del, NC_000010.10:g.121690798_121690801del, NC_000010.10:g.121690799_121690801del, NC_000010.10:g.121690800_121690801del, NC_000010.10:g.121690801del, NC_000010.10:g.121690801dup, NC_000010.10:g.121690800_121690801dup

Select item 14912034165.

rs1491203416 has merged into rs35075710 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:119936548 (GRCh38)
10:121696060 (GRCh37)
Canonical SPDI:: NC_000010.11:119936543:AAAAAAAAAAAAAAAAAAAAA:AAAA,NC_000010.11:119936543:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:119936543:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:119936543:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:119936543:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:119936543:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:119936543:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:119936543:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:119936543:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:119936543:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:119936543:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:119936543:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:119936543:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:119936543:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:119936543:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:119936543:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:119936543:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SEC23IP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
AAAAA=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.119936548_119936564del, NC_000010.11:g.119936552_119936564del, NC_000010.11:g.119936553_119936564del, NC_000010.11:g.119936555_119936564del, NC_000010.11:g.119936557_119936564del, NC_000010.11:g.119936559_119936564del, NC_000010.11:g.119936560_119936564del, NC_000010.11:g.119936561_119936564del, NC_000010.11:g.119936562_119936564del, NC_000010.11:g.119936563_119936564del, NC_000010.11:g.119936564del, NC_000010.11:g.119936564dup, NC_000010.11:g.119936563_119936564dup, NC_000010.11:g.119936562_119936564dup, NC_000010.11:g.119936561_119936564dup, NC_000010.11:g.119936560_119936564dup, NC_000010.11:g.119936559_119936564dup, NC_000010.10:g.121696060_121696076del, NC_000010.10:g.121696064_121696076del, NC_000010.10:g.121696065_121696076del, NC_000010.10:g.121696067_121696076del, NC_000010.10:g.121696069_121696076del, NC_000010.10:g.121696071_121696076del, NC_000010.10:g.121696072_121696076del, NC_000010.10:g.121696073_121696076del, NC_000010.10:g.121696074_121696076del, NC_000010.10:g.121696075_121696076del, NC_000010.10:g.121696076del, NC_000010.10:g.121696076dup, NC_000010.10:g.121696075_121696076dup, NC_000010.10:g.121696074_121696076dup, NC_000010.10:g.121696073_121696076dup, NC_000010.10:g.121696072_121696076dup, NC_000010.10:g.121696071_121696076dup

Select item 14911651856.

rs1491165185 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 10:119894936 (GRCh38)
10:121654448 (GRCh37)
Canonical SPDI:: NC_000010.11:119894935:GA:
Gene:: SEC23IP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.01133/42 (TWINSUK)
-=0.01687/65 (ALSPAC)
HGVS:: NC_000010.11:g.119894936_119894937del, NC_000010.10:g.121654448_121654449del

Select item 14911566357.

rs1491156635 has merged into rs398046283 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:119915735 (GRCh38)
10:121675247 (GRCh37)
Canonical SPDI:: NC_000010.11:119915726:TTTTTTTTTTTT:TTTTTTTT,NC_000010.11:119915726:TTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:119915726:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:119915726:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:119915726:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:119915726:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:119915726:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:119915726:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:119915726:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:119915726:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: SEC23IP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTTTTT=0.00004/1 (ALFA)
TT=0.04/24 (NorthernSweden)
TT=0.04558/169 (TWINSUK)
TT=0.05138/198 (ALSPAC)
HGVS:: NC_000010.11:g.119915735_119915738del, NC_000010.11:g.119915737_119915738del, NC_000010.11:g.119915738del, NC_000010.11:g.119915738dup, NC_000010.11:g.119915737_119915738dup, NC_000010.11:g.119915736_119915738dup, NC_000010.11:g.119915735_119915738dup, NC_000010.11:g.119915734_119915738dup, NC_000010.11:g.119915733_119915738dup, NC_000010.11:g.119915728_119915738dup, NC_000010.10:g.121675247_121675250del, NC_000010.10:g.121675249_121675250del, NC_000010.10:g.121675250del, NC_000010.10:g.121675250dup, NC_000010.10:g.121675249_121675250dup, NC_000010.10:g.121675248_121675250dup, NC_000010.10:g.121675247_121675250dup, NC_000010.10:g.121675246_121675250dup, NC_000010.10:g.121675245_121675250dup, NC_000010.10:g.121675240_121675250dup

Select item 14911008598.

rs1491100859 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 10:119923877 (GRCh38)
10:121683390 (GRCh37)
Canonical SPDI:: NC_000010.11:119923877:TT:TTT
Gene:: SEC23IP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.119923879dup, NC_000010.10:g.121683391dup

Select item 14910864249.

rs1491086424 has merged into rs11289281 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:119940199 (GRCh38)
10:121699711 (GRCh37)
Canonical SPDI:: NC_000010.11:119940187:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:119940187:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:119940187:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:119940187:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:119940187:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:119940187:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:119940187:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:119940187:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:119940187:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: SEC23IP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3259/1632 (1000Genomes)
HGVS:: NC_000010.11:g.119940199_119940205del, NC_000010.11:g.119940203_119940205del, NC_000010.11:g.119940204_119940205del, NC_000010.11:g.119940205del, NC_000010.11:g.119940205dup, NC_000010.11:g.119940204_119940205dup, NC_000010.11:g.119940203_119940205dup, NC_000010.11:g.119940202_119940205dup, NC_000010.11:g.119940201_119940205dup, NC_000010.10:g.121699711_121699717del, NC_000010.10:g.121699715_121699717del, NC_000010.10:g.121699716_121699717del, NC_000010.10:g.121699717del, NC_000010.10:g.121699717dup, NC_000010.10:g.121699716_121699717dup, NC_000010.10:g.121699715_121699717dup, NC_000010.10:g.121699714_121699717dup, NC_000010.10:g.121699713_121699717dup

Select item 149092577410.

rs1490925774 has merged into rs35657557 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTT [Show Flanks]
Chromosome:: 10:119924437 (GRCh38)
10:121683949 (GRCh37)
Canonical SPDI:: NC_000010.11:119924426:TTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:119924426:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:119924426:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:119924426:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:119924426:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: SEC23IP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.044078/11667 (TOPMED)
-=0.048004/178 (TWINSUK)
-=0.052413/202 (ALSPAC)
-=0.117812/590 (1000Genomes)
HGVS:: NC_000010.11:g.119924437_119924438del, NC_000010.11:g.119924438del, NC_000010.11:g.119924438dup, NC_000010.11:g.119924437_119924438dup, NC_000010.11:g.119924435_119924438dup, NC_000010.10:g.121683949_121683950del, NC_000010.10:g.121683950del, NC_000010.10:g.121683950dup, NC_000010.10:g.121683949_121683950dup, NC_000010.10:g.121683947_121683950dup

Select item 149082616711.

rs1490826167 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCGAGTAACAGTTGAATTATTTCTTACCAAG>- [Show Flanks]
Chromosome:: 10:119897659 (GRCh38)
10:121657171 (GRCh37)
Canonical SPDI:: NC_000010.11:119897656:AGTCGAGTAACAGTTGAATTATTTCTTACCAAG:AG
Gene:: SEC23IP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000079/21 (TOPMED)
-=0.000093/13 (GnomAD)
HGVS:: NC_000010.11:g.119897659_119897689del, NC_000010.10:g.121657171_121657201del

Select item 149075056212.

rs1490750562 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:119893582 (GRCh38)
10:121653094 (GRCh37)
Canonical SPDI:: NC_000010.11:119893581:C:T
Gene:: SEC23IP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000015/2 (GnomAD)
HGVS:: NC_000010.11:g.119893582C>T, NC_000010.10:g.121653094C>T

Select item 149073402013.

rs1490734020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:119895251 (GRCh38)
10:121654763 (GRCh37)
Canonical SPDI:: NC_000010.11:119895250:G:T
Gene:: SEC23IP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
T=0.000057/15 (TOPMED)
HGVS:: NC_000010.11:g.119895251G>T, NC_000010.10:g.121654763G>T

Select item 149070829714.

rs1490708297 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:119918059 (GRCh38)
10:121677571 (GRCh37)
Canonical SPDI:: NC_000010.11:119918058:T:G
Gene:: SEC23IP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.119918059T>G, NC_000010.10:g.121677571T>G

Select item 149070716715.

rs1490707167 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:119907420 (GRCh38)
10:121666932 (GRCh37)
Canonical SPDI:: NC_000010.11:119907419:A:T
Gene:: SEC23IP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000389/7 (TOMMO)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000010.11:g.119907420A>T, NC_000010.10:g.121666932A>T

Select item 149069154916.

rs1490691549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:119908401 (GRCh38)
10:121667913 (GRCh37)
Canonical SPDI:: NC_000010.11:119908400:T:A
Gene:: SEC23IP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.119908401T>A, NC_000010.10:g.121667913T>A

Select item 149060748417.

rs1490607484 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:119913073 (GRCh38)
10:121672585 (GRCh37)
Canonical SPDI:: NC_000010.11:119913072:C:T
Gene:: SEC23IP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.119913073C>T, NC_000010.10:g.121672585C>T

Select item 149043074518.

rs1490430745 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:119939284 (GRCh38)
10:121698796 (GRCh37)
Canonical SPDI:: NC_000010.11:119939283:A:G
Gene:: SEC23IP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000010.11:g.119939284A>G, NC_000010.10:g.121698796A>G

Select item 149039853419.

rs1490398534 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 10:119915216 (GRCh38)
10:121674728 (GRCh37)
Canonical SPDI:: NC_000010.11:119915215:A:
Gene:: SEC23IP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.119915216del, NC_000010.10:g.121674728del

Select item 149032757020.

rs1490327570 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 10:119932500 (GRCh38)
10:121692012 (GRCh37)
Canonical SPDI:: NC_000010.11:119932499:TTTTTTT:TTTTTT,NC_000010.11:119932499:TTTTTTT:TTTTTTTT
Gene:: SEC23IP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.119932506del, NC_000010.11:g.119932506dup, NC_000010.10:g.121692018del, NC_000010.10:g.121692018dup

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