SNP Links for Gene (Select 643382) - SNP

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Select item 14915854611.

rs1491585461 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 14:21098334 (GRCh38)
14:21566494 (GRCh37)
Canonical SPDI:: NC_000014.9:21098334::C
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD)
HGVS:: NC_000014.9:g.21098334_21098335insC, NC_000014.8:g.21566493_21566494insC, NG_053108.1:g.11388_11389insG, NM_016423.3:c.-107_-106insG, NM_016423.2:c.-107_-106insG, XM_024449625.2:c.159_160insG, XM_024449625.1:c.-244_-243insG, XP_024305393.2:p.Pro54fs

Select item 14910911842.

rs1491091184 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 14:21098335 (GRCh38)
14:21566494 (GRCh37)
Canonical SPDI:: NC_000014.9:21098333:GAG:G
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000014.9:g.21098335_21098336del, NC_000014.8:g.21566494_21566495del, NG_053108.1:g.11388_11389del, NM_016423.3:c.-107_-106del, NM_016423.2:c.-107_-106del, XM_024449625.2:c.159_160del, XM_024449625.1:c.-244_-243del, XP_024305393.2:p.Pro54fs

Select item 14909161953.

rs1490916195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:21102995 (GRCh38)
14:21571154 (GRCh37)
Canonical SPDI:: NC_000014.9:21102994:G:A
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000014.9:g.21102995G>A, NC_000014.8:g.21571154G>A, NG_053108.1:g.6728C>T, XM_047431456.1:c.-2355C>T

Select item 14907220854.

rs1490722085 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:21103230 (GRCh38)
14:21571389 (GRCh37)
Canonical SPDI:: NC_000014.9:21103229:A:G
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
HGVS:: NC_000014.9:g.21103230A>G, NC_000014.8:g.21571389A>G, NG_053108.1:g.6493T>C, XM_011537078.3:c.626A>G, XM_011537078.2:c.626A>G, XM_011537078.1:c.626A>G, XM_011537079.3:c.626A>G, XM_011537079.2:c.626A>G, XM_011537079.1:c.626A>G, XM_011537083.3:c.515A>G, XM_011537083.2:c.515A>G, XM_011537083.1:c.515A>G, XM_011537084.3:c.479A>G, XM_011537084.2:c.479A>G, XM_011537084.1:c.479A>G, XM_011537085.3:c.404A>G, XM_011537085.2:c.404A>G, XM_011537085.1:c.404A>G, NM_001146683.2:c.626A>G, NM_001146683.1:c.626A>G, XM_047431456.1:c.-2590T>C, XM_047431455.1:c.-211T>C, NM_001395465.1:c.341A>G, NM_001395464.1:c.515A>G, NM_001395466.1:c.341A>G, NM_001395467.1:c.626A>G, NR_172562.1:n.742A>G, XM_047431689.1:c.368A>G, XP_011535380.1:p.Gln209Arg, XP_011535381.1:p.Gln209Arg, XP_011535385.1:p.Gln172Arg, XP_011535386.1:p.Gln160Arg, XP_011535387.1:p.Gln135Arg, NP_001140155.1:p.Gln209Arg, NP_001382394.1:p.Gln114Arg, NP_001382393.1:p.Gln172Arg, NP_001382395.1:p.Gln114Arg, NP_001382396.1:p.Gln209Arg, XP_047287645.1:p.Gln123Arg

Select item 14902324335.

rs1490232433 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:21102551 (GRCh38)
14:21570710 (GRCh37)
Canonical SPDI:: NC_000014.9:21102550:G:A
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.21102551G>A, NC_000014.8:g.21570710G>A, NG_053108.1:g.7172C>T, XM_047431456.1:c.-1911C>T

Select item 14901694266.

rs1490169426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:21096955 (GRCh38)
14:21565114 (GRCh37)
Canonical SPDI:: NC_000014.9:21096954:C:G
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.21096955C>G, NC_000014.8:g.21565114C>G, NG_053108.1:g.12768G>C

Select item 14898719967.

rs1489871996 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:21103187 (GRCh38)
14:21571346 (GRCh37)
Canonical SPDI:: NC_000014.9:21103186:G:T
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000014.9:g.21103187G>T, NC_000014.8:g.21571346G>T, NG_053108.1:g.6536C>A, XM_011537078.3:c.583G>T, XM_011537078.2:c.583G>T, XM_011537078.1:c.583G>T, XM_011537079.3:c.583G>T, XM_011537079.2:c.583G>T, XM_011537079.1:c.583G>T, XM_011537083.3:c.472G>T, XM_011537083.2:c.472G>T, XM_011537083.1:c.472G>T, XM_011537084.3:c.436G>T, XM_011537084.2:c.436G>T, XM_011537084.1:c.436G>T, XM_011537085.3:c.361G>T, XM_011537085.2:c.361G>T, XM_011537085.1:c.361G>T, NM_001146683.2:c.583G>T, NM_001146683.1:c.583G>T, XM_047431456.1:c.-2547C>A, XM_047431455.1:c.-168C>A, NM_001395465.1:c.298G>T, NM_001395464.1:c.472G>T, NM_001395466.1:c.298G>T, NM_001395467.1:c.583G>T, NR_172562.1:n.699G>T, XM_047431689.1:c.325G>T, XP_011535380.1:p.Val195Leu, XP_011535381.1:p.Val195Leu, XP_011535385.1:p.Val158Leu, XP_011535386.1:p.Val146Leu, XP_011535387.1:p.Val121Leu, NP_001140155.1:p.Val195Leu, NP_001382394.1:p.Val100Leu, NP_001382393.1:p.Val158Leu, NP_001382395.1:p.Val100Leu, NP_001382396.1:p.Val195Leu, XP_047287645.1:p.Val109Leu

Select item 14897463178.

rs1489746317 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:21103634 (GRCh38)
14:21571793 (GRCh37)
Canonical SPDI:: NC_000014.9:21103633:T:G
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: 5_prime_UTR_variant,3_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.21103634T>G, NC_000014.8:g.21571793T>G, NG_053108.1:g.6089A>C, XM_011537078.3:c.*376T>G, XM_011537078.2:c.*376T>G, XM_011537078.1:c.*376T>G, XM_011537079.3:c.*376T>G, XM_011537079.2:c.*376T>G, XM_011537079.1:c.*376T>G, XM_011537083.3:c.*376T>G, XM_011537083.2:c.*376T>G, XM_011537083.1:c.*376T>G, XM_011537084.3:c.*376T>G, XM_011537084.2:c.*376T>G, XM_011537084.1:c.*376T>G, XM_011537085.3:c.*376T>G, XM_011537085.2:c.*376T>G, XM_011537085.1:c.*376T>G, NM_001146683.2:c.*376T>G, NM_001146683.1:c.*376T>G, XM_047431456.1:c.-2994A>C, XM_047431455.1:c.-615A>C, NM_001395465.1:c.*376T>G, NM_001395464.1:c.*376T>G, NM_001395466.1:c.*376T>G, NM_001395467.1:c.*376T>G, NR_172562.1:n.1146T>G, XM_047431689.1:c.*376T>G

Select item 14895644389.

rs1489564438 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:21097432 (GRCh38)
14:21565591 (GRCh37)
Canonical SPDI:: NC_000014.9:21097431:G:T
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_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_000014.9:g.21097432G>T, NC_000014.8:g.21565591G>T, NG_053108.1:g.12291C>A, XM_047431457.1:c.-188C>A

Select item 148880184510.

rs1488801845 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:21098812 (GRCh38)
14:21566971 (GRCh37)
Canonical SPDI:: NC_000014.9:21098811:A:G
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000014.9:g.21098812A>G, NC_000014.8:g.21566971A>G, NG_053108.1:g.10911T>C, NM_001101672.2:c.-85T>C, NM_001101672.1:c.-85T>C, XM_005267739.2:c.40T>C, XM_005267739.1:c.40T>C, XP_005267796.1:p.Cys14Arg

Select item 148838143211.

rs1488381432 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:21101999 (GRCh38)
14:21570158 (GRCh37)
Canonical SPDI:: NC_000014.9:21101998:T:C
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.21101999T>C, NC_000014.8:g.21570158T>C, NG_053108.1:g.7724A>G, XM_047431456.1:c.-1359A>G

Select item 148778400612.

rs1487784006 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 14:21104032 (GRCh38)
14:21572191 (GRCh37)
Canonical SPDI:: NC_000014.9:21104024:GCGCGCGCG:GCGCGCG
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GCGCGCG=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.21104026CG[3], NC_000014.8:g.21572185CG[3], NG_053108.1:g.5691GC[3], XM_047431456.1:c.-3392GC[3], XM_047431455.1:c.-1013GC[3]

Select item 148722576413.

rs1487225764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:21098367 (GRCh38)
14:21566526 (GRCh37)
Canonical SPDI:: NC_000014.9:21098366:G:C
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.21098367G>C, NC_000014.8:g.21566526G>C, NG_053108.1:g.11356C>G, NM_016423.3:c.-139C>G, NM_016423.2:c.-139C>G, XM_024449625.2:c.127C>G, XP_024305393.2:p.Arg43Gly

Select item 148646643114.

rs1486466431 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:21100301 (GRCh38)
14:21568460 (GRCh37)
Canonical SPDI:: NC_000014.9:21100300:G:C
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.21100301G>C, NC_000014.8:g.21568460G>C, NG_053108.1:g.9422C>G

Select item 148617307215.

rs1486173072 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:21101774 (GRCh38)
14:21569933 (GRCh37)
Canonical SPDI:: NC_000014.9:21101773:T:C
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000014.9:g.21101774T>C, NC_000014.8:g.21569933T>C, NG_053108.1:g.7949A>G, XM_047431456.1:c.-1134A>G

Select item 148614595316.

rs1486145953 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:21103996 (GRCh38)
14:21572155 (GRCh37)
Canonical SPDI:: NC_000014.9:21103995:G:A
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000014.9:g.21103996G>A, NC_000014.8:g.21572155G>A, NG_053108.1:g.5727C>T, XM_047431456.1:c.-3356C>T, XM_047431455.1:c.-977C>T

Select item 148509359917.

rs1485093599 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:21102645 (GRCh38)
14:21570804 (GRCh37)
Canonical SPDI:: NC_000014.9:21102644:C:T
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.21102645C>T, NC_000014.8:g.21570804C>T, NG_053108.1:g.7078G>A, XM_011537078.3:c.400C>T, XM_011537078.2:c.400C>T, XM_011537078.1:c.400C>T, XM_011537079.3:c.400C>T, XM_011537079.2:c.400C>T, XM_011537079.1:c.400C>T, XM_011537083.3:c.289C>T, XM_011537083.2:c.289C>T, XM_011537083.1:c.289C>T, XM_011537085.3:c.178C>T, XM_011537085.2:c.178C>T, XM_011537085.1:c.178C>T, NM_001146683.2:c.400C>T, NM_001146683.1:c.400C>T, XM_047431456.1:c.-2005G>A, NM_001395465.1:c.115C>T, NM_001395464.1:c.289C>T, NM_001395466.1:c.115C>T, NM_001395467.1:c.400C>T, NR_172562.1:n.516C>T

Select item 148445642518.

rs1484456425 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:21102714 (GRCh38)
14:21570873 (GRCh37)
Canonical SPDI:: NC_000014.9:21102713:T:C
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.21102714T>C, NC_000014.8:g.21570873T>C, NG_053108.1:g.7009A>G, XM_011537078.3:c.469T>C, XM_011537078.2:c.469T>C, XM_011537078.1:c.469T>C, XM_011537079.3:c.469T>C, XM_011537079.2:c.469T>C, XM_011537079.1:c.469T>C, XM_011537083.3:c.358T>C, XM_011537083.2:c.358T>C, XM_011537083.1:c.358T>C, XM_011537085.3:c.247T>C, XM_011537085.2:c.247T>C, XM_011537085.1:c.247T>C, NM_001146683.2:c.469T>C, NM_001146683.1:c.469T>C, XM_047431456.1:c.-2074A>G, NM_001395465.1:c.184T>C, NM_001395464.1:c.358T>C, NM_001395466.1:c.184T>C, NM_001395467.1:c.469T>C, NR_172562.1:n.585T>C

Select item 148391580019.

rs1483915800 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:21101503 (GRCh38)
14:21569662 (GRCh37)
Canonical SPDI:: NC_000014.9:21101502:T:C
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_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_000014.9:g.21101503T>C, NC_000014.8:g.21569662T>C, NG_053108.1:g.8220A>G, XM_047431456.1:c.-863A>G

Select item 148384645620.

rs1483846456 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 14:21098731 (GRCh38)
14:21566890 (GRCh37)
Canonical SPDI:: NC_000014.9:21098730:G:C,NC_000014.9:21098730:G:T
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
C=0.000425/7 (TOMMO)
HGVS:: NC_000014.9:g.21098731G>C, NC_000014.9:g.21098731G>T, NC_000014.8:g.21566890G>C, NC_000014.8:g.21566890G>T, NG_053108.1:g.10992C>G, NG_053108.1:g.10992C>A

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