SNP Links for Gene (Select 285267) - SNP

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Select item 14912686271.

rs1491268627 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:40475594 (GRCh38)
3:40517085 (GRCh37)
Canonical SPDI:: NC_000003.12:40475593:CA:
Gene:: ZNF619 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000003.12:g.40475594_40475595del, NC_000003.11:g.40517085_40517086del

Select item 14911945572.

rs1491194557 has merged into rs71094608 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTGT [Show Flanks]
Chromosome:: 3:40484262 (GRCh38)
3:40525753 (GRCh37)
Canonical SPDI:: NC_000003.12:40484250:TGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000003.12:40484250:TGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000003.12:40484250:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000003.12:40484250:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT
Gene:: ZNF619 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGT=0./0 (ALFA)
TG=0.01667/10 (NorthernSweden)
TG=0.025/1 (GENOME_DK)
TG=0.03103/139 (Estonian)
TG=0.05511/55 (GoNL)
TG=0.06246/313 (1000Genomes)
TG=0.11321/24 (Vietnamese)
TG=0.1206/2021 (TOMMO)
TG=0.13919/255 (Korea1K)
HGVS:: NC_000003.12:g.40484252GT[5], NC_000003.12:g.40484252GT[6], NC_000003.12:g.40484252GT[8], NC_000003.12:g.40484252GT[9], NC_000003.11:g.40525743GT[5], NC_000003.11:g.40525743GT[6], NC_000003.11:g.40525743GT[8], NC_000003.11:g.40525743GT[9]

Select item 14911024603.

rs1491102460 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CTTTCCTTTCCTTTCCTTTC [Show Flanks]
Chromosome:: 3:40475227 (GRCh38)
3:40516719 (GRCh37)
Canonical SPDI:: NC_000003.12:40475227::C,NC_000003.12:40475227::CTTTCCTTTCCTTTCCTTTC
Gene:: ZNF619 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTTCCTTTCCTTTCCTTTC=0./0 (ALFA)
C=0./0 (GnomAD)
HGVS:: NC_000003.12:g.40475227_40475228insC, NC_000003.12:g.40475227_40475228insCTTTCCTTTCCTTTCCTTTC, NC_000003.11:g.40516718_40516719insC, NC_000003.11:g.40516718_40516719insCTTTCCTTTCCTTTCCTTTC

Select item 14910674214.

rs1491067421 [Homo sapiens]

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

Select item 14902159365.

rs1490215936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:40476981 (GRCh38)
3:40518472 (GRCh37)
Canonical SPDI:: NC_000003.12:40476980:C:G
Gene:: ZNF619 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.40476981C>G, NC_000003.11:g.40518472C>G

Select item 14900082916.

rs1490008291 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:40490730 (GRCh38)
3:40532221 (GRCh37)
Canonical SPDI:: NC_000003.12:40490729:A:T
Gene:: ZNF619 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.40490730A>T, NC_000003.11:g.40532221A>T, NM_173656.5:c.*2489A>T, NM_173656.4:c.*2489A>T, NM_173656.3:c.*2489A>T, NM_001145082.4:c.*2489A>T, NM_001145082.3:c.*2489A>T, NM_001145093.4:c.*2489A>T, NM_001145093.3:c.*2489A>T, XM_006713113.4:c.*2489A>T, NM_001145094.3:c.*2489A>T, NM_001145094.2:c.*2489A>T, XM_006713112.3:c.*2489A>T, NM_001145083.3:c.*2489A>T, NM_001145083.2:c.*2489A>T, NM_001363277.2:c.*2489A>T, NM_001363277.1:c.*2489A>T, XM_011533607.2:c.*2489A>T, XM_017006225.2:c.*2489A>T, NM_001363278.1:c.*2489A>T, XM_047448010.1:c.*2489A>T

Select item 14898581247.

rs1489858124 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:40478519 (GRCh38)
3:40520010 (GRCh37)
Canonical SPDI:: NC_000003.12:40478518:A:G
Gene:: ZNF619 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.40478519A>G, NC_000003.11:g.40520010A>G

Select item 14897056968.

rs1489705696 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:40485244 (GRCh38)
3:40526735 (GRCh37)
Canonical SPDI:: NC_000003.12:40485243:A:G
Gene:: ZNF619 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000043/6 (GnomAD)
G=0.000053/14 (TOPMED)
HGVS:: NC_000003.12:g.40485244A>G, NC_000003.11:g.40526735A>G

Select item 14896546309.

rs1489654630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:40477371 (GRCh38)
3:40518862 (GRCh37)
Canonical SPDI:: NC_000003.12:40477370:G:A
Gene:: ZNF619 (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_000003.12:g.40477371G>A, NC_000003.11:g.40518862G>A

Select item 148958981010.

rs1489589810 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:40480197 (GRCh38)
3:40521688 (GRCh37)
Canonical SPDI:: NC_000003.12:40480196:A:C
Gene:: ZNF619 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.40480197A>C, NC_000003.11:g.40521688A>C

Select item 148931949611.

rs1489319496 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:40489670 (GRCh38)
3:40531161 (GRCh37)
Canonical SPDI:: NC_000003.12:40489669:T:C
Gene:: ZNF619 (Varview)
Functional Consequence:: 3_prime_UTR_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_000003.12:g.40489670T>C, NC_000003.11:g.40531161T>C, NM_173656.5:c.*1429T>C, NM_173656.4:c.*1429T>C, NM_173656.3:c.*1429T>C, NM_001145082.4:c.*1429T>C, NM_001145082.3:c.*1429T>C, NM_001145082.2:c.*1429T>C, NM_001145093.4:c.*1429T>C, NM_001145093.3:c.*1429T>C, NM_001145093.2:c.*1429T>C, XM_006713113.4:c.*1429T>C, NM_001145094.3:c.*1429T>C, NM_001145094.2:c.*1429T>C, XM_006713112.3:c.*1429T>C, NM_001145083.3:c.*1429T>C, NM_001145083.2:c.*1429T>C, NM_001363277.2:c.*1429T>C, NM_001363277.1:c.*1429T>C, XM_011533607.2:c.*1429T>C, XM_017006225.2:c.*1429T>C, NR_026746.2:n.3617T>C, NM_001363278.1:c.*1429T>C, XM_047448010.1:c.*1429T>C

Select item 148909854612.

rs1489098546 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:40479492 (GRCh38)
3:40520983 (GRCh37)
Canonical SPDI:: NC_000003.12:40479491:T:C
Gene:: ZNF619 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.40479492T>C, NC_000003.11:g.40520983T>C

Select item 148902032013.

rs1489020320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:40480326 (GRCh38)
3:40521817 (GRCh37)
Canonical SPDI:: NC_000003.12:40480325:G:A
Gene:: ZNF619 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.40480326G>A, NC_000003.11:g.40521817G>A

Select item 148892631814.

rs1488926318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:40475859 (GRCh38)
3:40517350 (GRCh37)
Canonical SPDI:: NC_000003.12:40475858:C:A
Gene:: ZNF619 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.40475859C>A, NC_000003.11:g.40517350C>A

Select item 148888819615.

rs1488888196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:40490112 (GRCh38)
3:40531603 (GRCh37)
Canonical SPDI:: NC_000003.12:40490111:C:T
Gene:: ZNF619 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.40490112C>T, NC_000003.11:g.40531603C>T, NM_173656.5:c.*1871C>T, NM_173656.4:c.*1871C>T, NM_173656.3:c.*1871C>T, NM_001145082.4:c.*1871C>T, NM_001145082.3:c.*1871C>T, NM_001145082.2:c.*1871C>T, NM_001145093.4:c.*1871C>T, NM_001145093.3:c.*1871C>T, NM_001145093.2:c.*1871C>T, XM_006713113.4:c.*1871C>T, NM_001145094.3:c.*1871C>T, NM_001145094.2:c.*1871C>T, XM_006713112.3:c.*1871C>T, NM_001145083.3:c.*1871C>T, NM_001145083.2:c.*1871C>T, NM_001363277.2:c.*1871C>T, NM_001363277.1:c.*1871C>T, XM_011533607.2:c.*1871C>T, XM_017006225.2:c.*1871C>T, NR_026746.2:n.4059C>T, NM_001363278.1:c.*1871C>T, XM_047448010.1:c.*1871C>T

Select item 148861087216.

rs1488610872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:40480634 (GRCh38)
3:40522125 (GRCh37)
Canonical SPDI:: NC_000003.12:40480633:G:T
Gene:: ZNF619 (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_000003.12:g.40480634G>T, NC_000003.11:g.40522125G>T

Select item 148850157617.

rs1488501576 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:40481747 (GRCh38)
3:40523238 (GRCh37)
Canonical SPDI:: NC_000003.12:40481746:G:A,NC_000003.12:40481746:G:T
Gene:: ZNF619 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.40481747G>A, NC_000003.12:g.40481747G>T, NC_000003.11:g.40523238G>A, NC_000003.11:g.40523238G>T

Select item 148824157418.

rs1488241574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:40489154 (GRCh38)
3:40530645 (GRCh37)
Canonical SPDI:: NC_000003.12:40489153:G:A
Gene:: ZNF619 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.40489154G>A, NC_000003.11:g.40530645G>A, NM_173656.5:c.*913G>A, NM_173656.4:c.*913G>A, NM_173656.3:c.*913G>A, NM_001145082.4:c.*913G>A, NM_001145082.3:c.*913G>A, NM_001145082.2:c.*913G>A, NM_001145093.4:c.*913G>A, NM_001145093.3:c.*913G>A, NM_001145093.2:c.*913G>A, XM_006713113.4:c.*913G>A, NM_001145094.3:c.*913G>A, NM_001145094.2:c.*913G>A, XM_006713112.3:c.*913G>A, NM_001145083.3:c.*913G>A, NM_001145083.2:c.*913G>A, NM_001363277.2:c.*913G>A, NM_001363277.1:c.*913G>A, XM_011533607.2:c.*913G>A, XM_017006225.2:c.*913G>A, NR_026746.2:n.3101G>A, NM_001363278.1:c.*913G>A, XM_047448010.1:c.*913G>A

Select item 148814467219.

rs1488144672 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:40483734 (GRCh38)
3:40525225 (GRCh37)
Canonical SPDI:: NC_000003.12:40483733:T:G
Gene:: ZNF619 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.40483734T>G, NC_000003.11:g.40525225T>G

Select item 148739577020.

rs1487395770 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:40475480 (GRCh38)
3:40516971 (GRCh37)
Canonical SPDI:: NC_000003.12:40475479:A:G
Gene:: ZNF619 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.40475480A>G, NC_000003.11:g.40516971A>G

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