SNP Links for Gene (Select 9117) - SNP

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Select item 14915718781.

rs1491571878 [Homo sapiens]

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

Select item 14915580502.

rs1491558050 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:42554996 (GRCh38)
3:42596488 (GRCh37)
Canonical SPDI:: NC_000003.12:42554994:ACA:A
Gene:: SEC22C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001012/12 (ALFA)
-=0.000248/4 (TOMMO)
-=0.004078/468 (GnomAD)
-=0.004997/32 (1000Genomes)
HGVS:: NC_000003.12:g.42554996_42554997del, NC_000003.11:g.42596488_42596489del

Select item 14915372353.

rs1491537235 has merged into rs56182942 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:42568661 (GRCh38)
3:42610153 (GRCh37)
Canonical SPDI:: NC_000003.12:42568650:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:42568650:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:42568650:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:42568650:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:42568650:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:42568650:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:42568650:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:42568650:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42568650:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SEC22C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.375/3 (KOREAN)
HGVS:: NC_000003.12:g.42568661_42568668del, NC_000003.12:g.42568662_42568668del, NC_000003.12:g.42568666_42568668del, NC_000003.12:g.42568667_42568668del, NC_000003.12:g.42568668del, NC_000003.12:g.42568668dup, NC_000003.12:g.42568667_42568668dup, NC_000003.12:g.42568666_42568668dup, NC_000003.12:g.42568660_42568668dup, NC_000003.11:g.42610153_42610160del, NC_000003.11:g.42610154_42610160del, NC_000003.11:g.42610158_42610160del, NC_000003.11:g.42610159_42610160del, NC_000003.11:g.42610160del, NC_000003.11:g.42610160dup, NC_000003.11:g.42610159_42610160dup, NC_000003.11:g.42610158_42610160dup, NC_000003.11:g.42610152_42610160dup

Select item 14915158444.

rs1491515844 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 3:42603041 (GRCh38)
3:42644533 (GRCh37)
Canonical SPDI:: NC_000003.12:42603039:AGA:A
Gene:: NKTR (Varview), SEC22C (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
-=0.000051/7 (GnomAD)
HGVS:: NC_000003.12:g.42603041_42603042del, NC_000003.11:g.42644533_42644534del

Select item 14914607275.

rs1491460727 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 3:42560530 (GRCh38)
3:42602022 (GRCh37)
Canonical SPDI:: NC_000003.12:42560528:AGA:A
Gene:: SEC22C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.42560530_42560531del, NC_000003.11:g.42602022_42602023del

Select item 14913097026.

rs1491309702 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:42603040 (GRCh38)
3:42644533 (GRCh37)
Canonical SPDI:: NC_000003.12:42603040:G:GG
Gene:: NKTR (Varview), SEC22C (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.42603041dup, NC_000003.11:g.42644533dup

Select item 14910217387.

rs1491021738 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA,AAAA [Show Flanks]
Chromosome:: 3:42560137 (GRCh38)
3:42601630 (GRCh37)
Canonical SPDI:: NC_000003.12:42560137:AAA:AAAAA,NC_000003.12:42560137:AAA:AAAAAAA
Gene:: SEC22C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0.002819/46 (ALFA)
AA=0.011667/21 (Korea1K)
AA=0.011848/1562 (GnomAD)
AA=0.017269/289 (TOMMO)
AA=0.02/12 (NorthernSweden)
HGVS:: NC_000003.12:g.42560139_42560140dup, NC_000003.12:g.42560140_42560141insAAAA, NC_000003.11:g.42601631_42601632dup, NC_000003.11:g.42601632_42601633insAAAA

Select item 14910010078.

rs1491001007 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:42576446 (GRCh38)
3:42617938 (GRCh37)
Canonical SPDI:: NC_000003.12:42576445:T:A
Gene:: SEC22C (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.42576446T>A, NC_000003.11:g.42617938T>A

Select item 14909132979.

rs1490913297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:42549116 (GRCh38)
3:42590608 (GRCh37)
Canonical SPDI:: NC_000003.12:42549115:G:C
Gene:: SEC22C (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.42549116G>C, NC_000003.11:g.42590608G>C, NM_032970.4:c.*4132C>G, NM_032970.3:c.*4132C>G, XM_011534212.3:c.*4132C>G, XM_011534212.2:c.*4132C>G, XM_011534212.1:c.*4132C>G, XM_024453812.2:c.*4132C>G, XM_024453812.1:c.*4132C>G, XM_047449168.1:c.*4132C>G, XM_047449171.1:c.*4132C>G

Select item 149082692810.

rs1490826928 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:42551681 (GRCh38)
3:42593173 (GRCh37)
Canonical SPDI:: NC_000003.12:42551680:T:C
Gene:: SEC22C (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.42551681T>C, NC_000003.11:g.42593173T>C, NM_032970.4:c.*1567A>G, NM_032970.3:c.*1567A>G, XM_011534212.3:c.*1567A>G, XM_011534212.2:c.*1567A>G, XM_011534212.1:c.*1567A>G, XM_024453812.2:c.*1567A>G, XM_024453812.1:c.*1567A>G, XM_047449168.1:c.*1567A>G, XM_047449171.1:c.*1567A>G

Select item 149081200111.

rs1490812001 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:42553010 (GRCh38)
3:42594502 (GRCh37)
Canonical SPDI:: NC_000003.12:42553009:T:C
Gene:: SEC22C (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_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_000003.12:g.42553010T>C, NC_000003.11:g.42594502T>C, NM_032970.4:c.*238A>G, NM_032970.3:c.*238A>G, XM_011534212.3:c.*238A>G, XM_011534212.2:c.*238A>G, XM_011534212.1:c.*238A>G, XM_024453812.2:c.*238A>G, XM_024453812.1:c.*238A>G, XM_047449168.1:c.*238A>G, XM_047449171.1:c.*238A>G

Select item 149080254812.

rs1490802548 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:42587707 (GRCh38)
3:42629199 (GRCh37)
Canonical SPDI:: NC_000003.12:42587706:G:T
Gene:: SEC22C (Varview), SS18L2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000022/3 (GnomAD)
HGVS:: NC_000003.12:g.42587707G>T, NC_000003.11:g.42629199G>T

Select item 149079380113.

rs1490793801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:42568144 (GRCh38)
3:42609636 (GRCh37)
Canonical SPDI:: NC_000003.12:42568143:G:A
Gene:: SEC22C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.42568144G>A, NC_000003.11:g.42609636G>A

Select item 149066499014.

rs1490664990 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>A
Chromosome:: no mapping
Canonical SPDI:

Select item 149065708615.

rs1490657086 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:42600369 (GRCh38)
3:42641861 (GRCh37)
Canonical SPDI:: NC_000003.12:42600368:A:G
Gene:: NKTR (Varview), SEC22C (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.42600369A>G, NC_000003.11:g.42641861A>G

Select item 149063524416.

rs1490635244 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:42600882 (GRCh38)
3:42642374 (GRCh37)
Canonical SPDI:: NC_000003.12:42600881:T:G
Gene:: NKTR (Varview), SEC22C (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.42600882T>G, NC_000003.11:g.42642374T>G

Select item 149057896817.

rs1490578968 [Homo sapiens]

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

Select item 149055840318.

rs1490558403 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:42569125 (GRCh38)
3:42610617 (GRCh37)
Canonical SPDI:: NC_000003.12:42569124:A:G,NC_000003.12:42569124:A:T
Gene:: SEC22C (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.42569125A>G, NC_000003.12:g.42569125A>T, NC_000003.11:g.42610617A>G, NC_000003.11:g.42610617A>T

Select item 149049551419.

rs1490495514 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:42576892 (GRCh38)
3:42618384 (GRCh37)
Canonical SPDI:: NC_000003.12:42576891:T:C
Gene:: SEC22C (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.42576892T>C, NC_000003.11:g.42618384T>C

Select item 149038026020.

rs1490380260 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTAT,CTATATAT,CTCTAT [Show Flanks]
Chromosome:: 3:42560120 (GRCh38)
3:42601613 (GRCh37)
Canonical SPDI:: NC_000003.12:42560120:T:TCTAT,NC_000003.12:42560120:T:TCTATATAT,NC_000003.12:42560120:T:TCTCTAT
Gene:: SEC22C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTAT=0./0 (ALFA)
TCTATATA=0.000004/1 (TOPMED)
TCTA=0.000999/86 (GnomAD)
HGVS:: NC_000003.12:g.42560121_42560122insCTAT, NC_000003.12:g.42560121_42560122insCTATATAT, NC_000003.12:g.42560121TC[2]TAT[1], NC_000003.11:g.42601613_42601614insCTAT, NC_000003.11:g.42601613_42601614insCTATATAT, NC_000003.11:g.42601613TC[2]TAT[1]

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