SNP Links for Gene (Select 388561) - SNP

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Select item 14915220661.

rs1491522066 has merged into rs34335605 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG [Show Flanks]
Chromosome:: 19:53433048 (GRCh38)
19:53936301 (GRCh37)
Canonical SPDI:: NC_000019.10:53433044:GGGGGG:GGG,NC_000019.10:53433044:GGGGGG:GGGG,NC_000019.10:53433044:GGGGGG:GGGGG,NC_000019.10:53433044:GGGGGG:GGGGGGG
Gene:: TPM3P9 (Varview), ZNF761 (Varview), ZNF765-ZNF761 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
-=0.00052/2 (ALSPAC)
-=0.00776/130 (TOMMO)
HGVS:: NC_000019.10:g.53433048_53433050del, NC_000019.10:g.53433049_53433050del, NC_000019.10:g.53433050del, NC_000019.10:g.53433050dup, NC_000019.9:g.53936301_53936303del, NC_000019.9:g.53936302_53936303del, NC_000019.9:g.53936303del, NC_000019.9:g.53936303dup

Select item 14914543812.

rs1491454381 has merged into rs35551715 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 19:53448790 (GRCh38)
19:53952043 (GRCh37)
Canonical SPDI:: NC_000019.10:53448775:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:53448775:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:53448775:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:53448775:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:53448775:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:53448775:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:53448775:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:53448775:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:53448775:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:53448775:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF761 (Varview), ZNF765-ZNF761 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.3325/1665 (1000Genomes)
HGVS:: NC_000019.10:g.53448790_53448794del, NC_000019.10:g.53448791_53448794del, NC_000019.10:g.53448792_53448794del, NC_000019.10:g.53448793_53448794del, NC_000019.10:g.53448794del, NC_000019.10:g.53448794dup, NC_000019.10:g.53448793_53448794dup, NC_000019.10:g.53448792_53448794dup, NC_000019.10:g.53448791_53448794dup, NC_000019.10:g.53448790_53448794dup, NC_000019.9:g.53952043_53952047del, NC_000019.9:g.53952044_53952047del, NC_000019.9:g.53952045_53952047del, NC_000019.9:g.53952046_53952047del, NC_000019.9:g.53952047del, NC_000019.9:g.53952047dup, NC_000019.9:g.53952046_53952047dup, NC_000019.9:g.53952045_53952047dup, NC_000019.9:g.53952044_53952047dup, NC_000019.9:g.53952043_53952047dup

Select item 14913822623.

rs1491382262 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:53458158 (GRCh38)
19:53961413 (GRCh37)
Canonical SPDI:: NC_000019.10:53458158:A:AA
Gene:: ZNF761 (Varview), ZNF765-ZNF761 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.53458159dup, NC_000019.9:g.53961413dup, NM_001008401.4:c.*1411dup, NM_001008401.3:c.*1411dup, NM_001350496.2:c.*1411dup, NM_001350496.1:c.*1411dup, NM_001289951.2:c.*1411dup, NM_001289951.1:c.*1411dup, NM_001289952.1:c.*1411dup

Select item 14912103164.

rs1491210316 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:53458159 (GRCh38)
19:53961413 (GRCh37)
Canonical SPDI:: NC_000019.10:53458157:TAT:T
Gene:: ZNF761 (Varview), ZNF765-ZNF761 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.53458159_53458160del, NC_000019.9:g.53961413_53961414del, NM_001008401.4:c.*1411_*1412del, NM_001008401.3:c.*1411_*1412del, NM_001350496.2:c.*1411_*1412del, NM_001350496.1:c.*1411_*1412del, NM_001289951.2:c.*1411_*1412del, NM_001289951.1:c.*1411_*1412del, NM_001289952.1:c.*1411_*1412del

Select item 14910471405.

rs1491047140 has merged into rs34019664 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:53451006 (GRCh38)
19:53954260 (GRCh37)
Canonical SPDI:: NC_000019.10:53450992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:53450992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:53450992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:53450992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:53450992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:53450992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:53450992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:53450992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:53450992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:53450992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF761 (Varview), ZNF765-ZNF761 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.2226/130 (NorthernSweden)
A=0.4/16 (GENOME_DK)
HGVS:: NC_000019.10:g.53451006_53451009del, NC_000019.10:g.53451007_53451009del, NC_000019.10:g.53451008_53451009del, NC_000019.10:g.53451009del, NC_000019.10:g.53451009dup, NC_000019.10:g.53451008_53451009dup, NC_000019.10:g.53451007_53451009dup, NC_000019.10:g.53451006_53451009dup, NC_000019.10:g.53451003_53451009dup, NC_000019.10:g.53451001_53451009dup, NC_000019.9:g.53954260_53954263del, NC_000019.9:g.53954261_53954263del, NC_000019.9:g.53954262_53954263del, NC_000019.9:g.53954263del, NC_000019.9:g.53954263dup, NC_000019.9:g.53954262_53954263dup, NC_000019.9:g.53954261_53954263dup, NC_000019.9:g.53954260_53954263dup, NC_000019.9:g.53954257_53954263dup, NC_000019.9:g.53954255_53954263dup

Select item 14909816096.

rs1490981609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53455585 (GRCh38)
19:53958839 (GRCh37)
Canonical SPDI:: NC_000019.10:53455584:G:A
Gene:: ZNF761 (Varview), ZNF765-ZNF761 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.53455585G>A, NC_000019.9:g.53958839G>A, NM_001008401.4:c.1078G>A, NM_001008401.3:c.1078G>A, NM_001350496.2:c.1078G>A, NM_001350496.1:c.1078G>A, NM_001289951.2:c.1078G>A, NM_001289951.1:c.1078G>A, NM_001289952.1:c.1078G>A, NP_001008401.3:p.Gly360Ser, NP_001337425.1:p.Gly360Ser, NP_001276880.1:p.Gly360Ser, NP_001276881.1:p.Gly360Ser

Select item 14908984167.

rs1490898416 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:53440353 (GRCh38)
19:53943606 (GRCh37)
Canonical SPDI:: NC_000019.10:53440352:T:G
Gene:: TPM3P9 (Varview), ZNF761 (Varview), ZNF765-ZNF761 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.53440353T>G, NC_000019.9:g.53943606T>G

Select item 14907799838.

rs1490779983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:53433819 (GRCh38)
19:53937072 (GRCh37)
Canonical SPDI:: NC_000019.10:53433818:C:A,NC_000019.10:53433818:C:T
Gene:: TPM3P9 (Varview), ZNF761 (Varview), ZNF765-ZNF761 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53433819C>A, NC_000019.10:g.53433819C>T, NC_000019.9:g.53937072C>A, NC_000019.9:g.53937072C>T

Select item 14907019539.

rs1490701953 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:53445320 (GRCh38)
19:53948573 (GRCh37)
Canonical SPDI:: NC_000019.10:53445319:G:T
Gene:: ZNF761 (Varview), ZNF765-ZNF761 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.53445320G>T, NC_000019.9:g.53948573G>T

Select item 149068906510.

rs1490689065 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 19:53446442 (GRCh38)
19:53949695 (GRCh37)
Canonical SPDI:: NC_000019.10:53446440:TCTT:T
Gene:: ZNF761 (Varview), ZNF765-ZNF761 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.53446442_53446444del, NC_000019.9:g.53949695_53949697del

Select item 149049168611.

rs1490491686 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53431048 (GRCh38)
19:53934301 (GRCh37)
Canonical SPDI:: NC_000019.10:53431047:T:C
Gene:: TPM3P9 (Varview), ZNF761 (Varview), ZNF765-ZNF761 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.53431048T>C, NC_000019.9:g.53934301T>C

Select item 149040736212.

rs1490407362 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53439946 (GRCh38)
19:53943199 (GRCh37)
Canonical SPDI:: NC_000019.10:53439945:C:T
Gene:: TPM3P9 (Varview), ZNF761 (Varview), ZNF765-ZNF761 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.53439946C>T, NC_000019.9:g.53943199C>T

Select item 149034493613.

rs1490344936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53453978 (GRCh38)
19:53957232 (GRCh37)
Canonical SPDI:: NC_000019.10:53453977:C:T
Gene:: ZNF761 (Varview), ZNF765-ZNF761 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000019.10:g.53453978C>T, NC_000019.9:g.53957232C>T

Select item 149031145014.

rs1490311450 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:53430088 (GRCh38)
19:53933341 (GRCh37)
Canonical SPDI:: NC_000019.10:53430087:CC:C
Gene:: TPM3P9 (Varview), ZNF761 (Varview), ZNF765-ZNF761 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0.00017/2 (ALFA)
-=0.00012/9 (GnomAD)
HGVS:: NC_000019.10:g.53430089del, NC_000019.9:g.53933342del

Select item 148998826915.

rs1489988269 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:53434112 (GRCh38)
19:53937365 (GRCh37)
Canonical SPDI:: NC_000019.10:53434111:A:G
Gene:: TPM3P9 (Varview), ZNF761 (Varview), ZNF765-ZNF761 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.53434112A>G, NC_000019.9:g.53937365A>G

Select item 148989380116.

rs1489893801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53447674 (GRCh38)
19:53950927 (GRCh37)
Canonical SPDI:: NC_000019.10:53447673:G:A
Gene:: ZNF761 (Varview), ZNF765-ZNF761 (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_000019.10:g.53447674G>A, NC_000019.9:g.53950927G>A

Select item 148969850717.

rs1489698507 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53448962 (GRCh38)
19:53952215 (GRCh37)
Canonical SPDI:: NC_000019.10:53448961:T:C
Gene:: ZNF761 (Varview), ZNF765-ZNF761 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.53448962T>C, NC_000019.9:g.53952215T>C

Select item 148968841018.

rs1489688410 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:53441792 (GRCh38)
19:53945045 (GRCh37)
Canonical SPDI:: NC_000019.10:53441791:A:T
Gene:: TPM3P9 (Varview), ZNF761 (Varview), ZNF765-ZNF761 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.53441792A>T, NC_000019.9:g.53945045A>T

Select item 148966571019.

rs1489665710 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:53448078 (GRCh38)
19:53951331 (GRCh37)
Canonical SPDI:: NC_000019.10:53448077:G:A,NC_000019.10:53448077:G:C
Gene:: ZNF761 (Varview), ZNF765-ZNF761 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.53448078G>A, NC_000019.10:g.53448078G>C, NC_000019.9:g.53951331G>A, NC_000019.9:g.53951331G>C

Select item 148953159220.

rs1489531592 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53439387 (GRCh38)
19:53942640 (GRCh37)
Canonical SPDI:: NC_000019.10:53439386:G:A
Gene:: TPM3P9 (Varview), ZNF761 (Varview), ZNF765-ZNF761 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.53439387G>A, NC_000019.9:g.53942640G>A

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