SNP Links for Gene (Select 7020) - SNP

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Select item 14915338451.

rs1491533845 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:10406175 (GRCh38)
6:10406408 (GRCh37)
Canonical SPDI:: NC_000006.12:10406171:ACACA:ACA
Gene:: TFAP2A (Varview), TFAP2A-AS2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.10406173CA[1], NC_000006.11:g.10406406CA[1], NG_016151.1:g.18390GT[1], NR_145448.1:n.1672CA[1]

Select item 14915216202.

rs1491521620 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 6:10411046 (GRCh38)
6:10411279 (GRCh37)
Canonical SPDI:: NC_000006.12:10411045:GC:
Gene:: TFAP2A (Varview), TFAP2A-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.001012/12 (ALFA)
-=0.001733/203 (GnomAD)
HGVS:: NC_000006.12:g.10411046_10411047del, NC_000006.11:g.10411279_10411280del, NG_016151.1:g.13518_13519del

Select item 14914971263.

rs1491497126 has merged into rs74734439 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCCCC>-,C,CCCC,CCCCC,CCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC [Show Flanks]
Chromosome:: 6:10411052 (GRCh38)
6:10411285 (GRCh37)
Canonical SPDI:: NC_000006.12:10411046:CCCCCCCCCCCC:CCCCC,NC_000006.12:10411046:CCCCCCCCCCCC:CCCCCC,NC_000006.12:10411046:CCCCCCCCCCCC:CCCCCCCCC,NC_000006.12:10411046:CCCCCCCCCCCC:CCCCCCCCCC,NC_000006.12:10411046:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000006.12:10411046:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000006.12:10411046:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000006.12:10411046:CCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000006.12:10411046:CCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000006.12:10411046:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCC
Gene:: TFAP2A (Varview), TFAP2A-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
C=0.25/2 (KOREAN)
HGVS:: NC_000006.12:g.10411052_10411058del, NC_000006.12:g.10411053_10411058del, NC_000006.12:g.10411056_10411058del, NC_000006.12:g.10411057_10411058del, NC_000006.12:g.10411058del, NC_000006.12:g.10411058dup, NC_000006.12:g.10411057_10411058dup, NC_000006.12:g.10411056_10411058dup, NC_000006.12:g.10411055_10411058dup, NC_000006.12:g.10411054_10411058dup, NC_000006.11:g.10411285_10411291del, NC_000006.11:g.10411286_10411291del, NC_000006.11:g.10411289_10411291del, NC_000006.11:g.10411290_10411291del, NC_000006.11:g.10411291del, NC_000006.11:g.10411291dup, NC_000006.11:g.10411290_10411291dup, NC_000006.11:g.10411289_10411291dup, NC_000006.11:g.10411288_10411291dup, NC_000006.11:g.10411287_10411291dup, NG_016151.1:g.13512_13518del, NG_016151.1:g.13513_13518del, NG_016151.1:g.13516_13518del, NG_016151.1:g.13517_13518del, NG_016151.1:g.13518del, NG_016151.1:g.13518dup, NG_016151.1:g.13517_13518dup, NG_016151.1:g.13516_13518dup, NG_016151.1:g.13515_13518dup, NG_016151.1:g.13514_13518dup

Select item 14914550654.

rs1491455065 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:10406172 (GRCh38)
6:10406406 (GRCh37)
Canonical SPDI:: NC_000006.12:10406172:C:CC
Gene:: TFAP2A (Varview), TFAP2A-AS2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.10406173dup, NC_000006.11:g.10406406dup, NG_016151.1:g.18392dup, NR_145448.1:n.1672dup

Select item 14910829785.

rs1491082978 has merged into rs74734439 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCCCC>-,C,CCCC,CCCCC,CCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC [Show Flanks]
Chromosome:: 6:10411052 (GRCh38)
6:10411285 (GRCh37)
Canonical SPDI:: NC_000006.12:10411046:CCCCCCCCCCCC:CCCCC,NC_000006.12:10411046:CCCCCCCCCCCC:CCCCCC,NC_000006.12:10411046:CCCCCCCCCCCC:CCCCCCCCC,NC_000006.12:10411046:CCCCCCCCCCCC:CCCCCCCCCC,NC_000006.12:10411046:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000006.12:10411046:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000006.12:10411046:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000006.12:10411046:CCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000006.12:10411046:CCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000006.12:10411046:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCC
Gene:: TFAP2A (Varview), TFAP2A-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
C=0.25/2 (KOREAN)
HGVS:: NC_000006.12:g.10411052_10411058del, NC_000006.12:g.10411053_10411058del, NC_000006.12:g.10411056_10411058del, NC_000006.12:g.10411057_10411058del, NC_000006.12:g.10411058del, NC_000006.12:g.10411058dup, NC_000006.12:g.10411057_10411058dup, NC_000006.12:g.10411056_10411058dup, NC_000006.12:g.10411055_10411058dup, NC_000006.12:g.10411054_10411058dup, NC_000006.11:g.10411285_10411291del, NC_000006.11:g.10411286_10411291del, NC_000006.11:g.10411289_10411291del, NC_000006.11:g.10411290_10411291del, NC_000006.11:g.10411291del, NC_000006.11:g.10411291dup, NC_000006.11:g.10411290_10411291dup, NC_000006.11:g.10411289_10411291dup, NC_000006.11:g.10411288_10411291dup, NC_000006.11:g.10411287_10411291dup, NG_016151.1:g.13512_13518del, NG_016151.1:g.13513_13518del, NG_016151.1:g.13516_13518del, NG_016151.1:g.13517_13518del, NG_016151.1:g.13518del, NG_016151.1:g.13518dup, NG_016151.1:g.13517_13518dup, NG_016151.1:g.13516_13518dup, NG_016151.1:g.13515_13518dup, NG_016151.1:g.13514_13518dup

Select item 14910651916.

rs1491065191 has merged into rs70991005 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 6:10416438 (GRCh38)
6:10416671 (GRCh37)
Canonical SPDI:: NC_000006.12:10416429:AAAAAAAAAAAA:AAAAAAAA,NC_000006.12:10416429:AAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:10416429:AAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:10416429:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:10416429:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:10416429:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:10416429:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:10416429:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:10416429:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:10416429:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:10416429:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: TFAP2A (Varview), TFAP2A-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.2163/1083 (1000Genomes)
HGVS:: NC_000006.12:g.10416438_10416441del, NC_000006.12:g.10416439_10416441del, NC_000006.12:g.10416440_10416441del, NC_000006.12:g.10416441del, NC_000006.12:g.10416441dup, NC_000006.12:g.10416440_10416441dup, NC_000006.12:g.10416439_10416441dup, NC_000006.12:g.10416438_10416441dup, NC_000006.12:g.10416437_10416441dup, NC_000006.12:g.10416436_10416441dup, NC_000006.12:g.10416435_10416441dup, NC_000006.11:g.10416671_10416674del, NC_000006.11:g.10416672_10416674del, NC_000006.11:g.10416673_10416674del, NC_000006.11:g.10416674del, NC_000006.11:g.10416674dup, NC_000006.11:g.10416673_10416674dup, NC_000006.11:g.10416672_10416674dup, NC_000006.11:g.10416671_10416674dup, NC_000006.11:g.10416670_10416674dup, NC_000006.11:g.10416669_10416674dup, NC_000006.11:g.10416668_10416674dup, NG_016151.1:g.8132_8135del, NG_016151.1:g.8133_8135del, NG_016151.1:g.8134_8135del, NG_016151.1:g.8135del, NG_016151.1:g.8135dup, NG_016151.1:g.8134_8135dup, NG_016151.1:g.8133_8135dup, NG_016151.1:g.8132_8135dup, NG_016151.1:g.8131_8135dup, NG_016151.1:g.8130_8135dup, NG_016151.1:g.8129_8135dup

Select item 14909974877.

rs1490997487 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:10409191 (GRCh38)
6:10409424 (GRCh37)
Canonical SPDI:: NC_000006.12:10409190:G:T
Gene:: TFAP2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.10409191G>T, NC_000006.11:g.10409424G>T, NG_016151.1:g.15374C>A

Select item 14909806828.

rs1490980682 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:10407997 (GRCh38)
6:10408230 (GRCh37)
Canonical SPDI:: NC_000006.12:10407996:C:T
Gene:: TFAP2A (Varview), TFAP2A-AS2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.10407997C>T, NC_000006.11:g.10408230C>T, NG_016151.1:g.16568G>A

Select item 14908577459.

rs1490857745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:10412768 (GRCh38)
6:10413001 (GRCh37)
Canonical SPDI:: NC_000006.12:10412767:C:T
Gene:: TFAP2A (Varview), TFAP2A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.0006/1 (Korea1K)
HGVS:: NC_000006.12:g.10412768C>T, NC_000006.11:g.10413001C>T, NG_016151.1:g.11797G>A

Select item 149074684910.

rs1490746849 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:10414673 (GRCh38)
6:10414906 (GRCh37)
Canonical SPDI:: NC_000006.12:10414672:A:G
Gene:: TFAP2A (Varview), TFAP2A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.10414673A>G, NC_000006.11:g.10414906A>G, NG_016151.1:g.9892T>C

Select item 149050641311.

rs1490506413 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 6:10409608 (GRCh38)
6:10409842 (GRCh37)
Canonical SPDI:: NC_000006.12:10409608:GAGAG:GAGAGAG
Gene:: TFAP2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAG=0./0 (ALFA)
GA=0.000007/1 (GnomAD)
GA=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.10409610AG[3], NC_000006.11:g.10409843AG[3], NG_016151.1:g.14953TC[3]

Select item 149044183012.

rs1490441830 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:10421520 (GRCh38)
6:10421753 (GRCh37)
Canonical SPDI:: NC_000006.12:10421519:G:A,NC_000006.12:10421519:G:C
Gene:: TFAP2A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.10421520G>A, NC_000006.12:g.10421520G>C, NC_000006.11:g.10421753G>A, NC_000006.11:g.10421753G>C, NG_016151.1:g.3045C>T, NG_016151.1:g.3045C>G

Select item 149036739513.

rs1490367395 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:10410372 (GRCh38)
6:10410605 (GRCh37)
Canonical SPDI:: NC_000006.12:10410371:A:G
Gene:: TFAP2A (Varview), TFAP2A-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.10410372A>G, NC_000006.11:g.10410605A>G, NG_016151.1:g.14193T>C

Select item 149015659014.

rs1490156590 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:10405656 (GRCh38)
6:10405889 (GRCh37)
Canonical SPDI:: NC_000006.12:10405655:A:G
Gene:: TFAP2A (Varview), TFAP2A-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.10405656A>G, NC_000006.11:g.10405889A>G, NG_016151.1:g.18909T>C, NR_145448.1:n.1155A>G

Select item 149001957315.

rs1490019573 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:10410028 (GRCh38)
6:10410261 (GRCh37)
Canonical SPDI:: NC_000006.12:10410027:A:G
Gene:: TFAP2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.10410028A>G, NC_000006.11:g.10410261A>G, NG_016151.1:g.14537T>C, NM_001032280.3:c.335T>C, NM_001032280.2:c.335T>C, NM_001042425.3:c.341T>C, NM_001042425.2:c.341T>C, NM_001042425.1:c.341T>C, NM_003220.2:c.353T>C, NM_001372066.1:c.359T>C, NM_003220.3:c.353T>C, NP_001027451.1:p.Leu112Pro, NP_001035890.1:p.Leu114Pro, NP_001358995.1:p.Leu120Pro

Select item 148973706816.

rs1489737068 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:10403034 (GRCh38)
6:10403267 (GRCh37)
Canonical SPDI:: NC_000006.12:10403033:A:G
Gene:: TFAP2A (Varview), TFAP2A-AS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.10403034A>G, NC_000006.11:g.10403267A>G, NG_075700.2:g.91A>G, NG_016151.1:g.21531T>C

Select item 148962174917.

rs1489621749 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:10417408 (GRCh38)
6:10417641 (GRCh37)
Canonical SPDI:: NC_000006.12:10417407:G:A
Gene:: TFAP2A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000006.12:g.10417408G>A, NC_000006.11:g.10417641G>A, NG_016151.1:g.7157C>T

Select item 148954440118.

rs1489544401 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:10401576 (GRCh38)
6:10401809 (GRCh37)
Canonical SPDI:: NC_000006.12:10401575:A:G,NC_000006.12:10401575:A:T
Gene:: TFAP2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.10401576A>G, NC_000006.12:g.10401576A>T, NC_000006.11:g.10401809A>G, NC_000006.11:g.10401809A>T, NG_016151.1:g.22989T>C, NG_016151.1:g.22989T>A

Select item 148897358619.

rs1488973586 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:10402739 (GRCh38)
6:10402972 (GRCh37)
Canonical SPDI:: NC_000006.12:10402738:A:T
Gene:: TFAP2A (Varview), TFAP2A-AS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.10402739A>T, NC_000006.11:g.10402972A>T, NG_016151.1:g.21826T>A

Select item 148893409920.

rs1488934099 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:10408153 (GRCh38)
6:10408386 (GRCh37)
Canonical SPDI:: NC_000006.12:10408152:G:T
Gene:: TFAP2A (Varview), TFAP2A-AS2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.10408153G>T, NC_000006.11:g.10408386G>T, NG_016151.1:g.16412C>A

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