SNP Links for Gene (Select 105372127) - SNP

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Select item 14915481041.

rs1491548104 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACCC,GCCC [Show Flanks]
Chromosome:: 18:55468884 (GRCh38)
18:53136116 (GRCh37)
Canonical SPDI:: NC_000018.10:55468884:CCC:CCCACCC,NC_000018.10:55468884:CCC:CCCGCCC
Gene:: TCF4 (Varview), TCF4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCCGCCC=0./0 (ALFA)
HGVS:: NC_000018.10:g.55468887_55468888insACCC, NC_000018.10:g.55468887_55468888insGCCC, NC_000018.9:g.53136118_53136119insACCC, NC_000018.9:g.53136118_53136119insGCCC, NG_011716.2:g.172109_172110insTGGG, NG_011716.2:g.172109_172110insCGGG

Select item 14915245002.

rs1491524500 has merged into rs5825142 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC [Show Flanks]
Chromosome:: 18:55468891 (GRCh38)
18:53136122 (GRCh37)
Canonical SPDI:: NC_000018.10:55468881:CCCCCCCCCCCC:CCCCCCCCC,NC_000018.10:55468881:CCCCCCCCCCCC:CCCCCCCCCC,NC_000018.10:55468881:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000018.10:55468881:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000018.10:55468881:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000018.10:55468881:CCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000018.10:55468881:CCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000018.10:55468881:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCC
Gene:: TCF4 (Varview), TCF4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCC=0./0 (ALFA)
C=0.146/731 (1000Genomes)
HGVS:: NC_000018.10:g.55468891_55468893del, NC_000018.10:g.55468892_55468893del, NC_000018.10:g.55468893del, NC_000018.10:g.55468893dup, NC_000018.10:g.55468892_55468893dup, NC_000018.10:g.55468891_55468893dup, NC_000018.10:g.55468890_55468893dup, NC_000018.10:g.55468889_55468893dup, NC_000018.9:g.53136122_53136124del, NC_000018.9:g.53136123_53136124del, NC_000018.9:g.53136124del, NC_000018.9:g.53136124dup, NC_000018.9:g.53136123_53136124dup, NC_000018.9:g.53136122_53136124dup, NC_000018.9:g.53136121_53136124dup, NC_000018.9:g.53136120_53136124dup, NG_011716.2:g.172110_172112del, NG_011716.2:g.172111_172112del, NG_011716.2:g.172112del, NG_011716.2:g.172112dup, NG_011716.2:g.172111_172112dup, NG_011716.2:g.172110_172112dup, NG_011716.2:g.172109_172112dup, NG_011716.2:g.172108_172112dup

Select item 14912674453.

rs1491267445 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:55481103 (GRCh38)
18:53148334 (GRCh37)
Canonical SPDI:: NC_000018.10:55481102:CA:
Gene:: TCF4 (Varview), TCF4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000018.10:g.55481103_55481104del, NC_000018.9:g.53148334_53148335del, NG_011716.2:g.159890_159891del

Select item 14912027104.

rs1491202710 has merged into rs35889370 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:55455184 (GRCh38)
18:53122415 (GRCh37)
Canonical SPDI:: NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:55455179:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TCF4 (Varview), TCF4-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AAAAAAAAAA=0./0 (GENOME_DK)
-=0.000064/17 (TOPMED)
HGVS:: NC_000018.10:g.55455184_55455203del, NC_000018.10:g.55455189_55455203del, NC_000018.10:g.55455190_55455203del, NC_000018.10:g.55455191_55455203del, NC_000018.10:g.55455192_55455203del, NC_000018.10:g.55455193_55455203del, NC_000018.10:g.55455194_55455203del, NC_000018.10:g.55455195_55455203del, NC_000018.10:g.55455196_55455203del, NC_000018.10:g.55455197_55455203del, NC_000018.10:g.55455198_55455203del, NC_000018.10:g.55455199_55455203del, NC_000018.10:g.55455200_55455203del, NC_000018.10:g.55455201_55455203del, NC_000018.10:g.55455202_55455203del, NC_000018.10:g.55455203del, NC_000018.10:g.55455203dup, NC_000018.10:g.55455202_55455203dup, NC_000018.10:g.55455201_55455203dup, NC_000018.10:g.55455200_55455203dup, NC_000018.10:g.55455199_55455203dup, NC_000018.10:g.55455198_55455203dup, NC_000018.10:g.55455197_55455203dup, NC_000018.10:g.55455196_55455203dup, NC_000018.10:g.55455195_55455203dup, NC_000018.10:g.55455194_55455203dup, NC_000018.10:g.55455193_55455203dup, NC_000018.10:g.55455192_55455203dup, NC_000018.10:g.55455191_55455203dup, NC_000018.10:g.55455190_55455203dup, NC_000018.10:g.55455189_55455203dup, NC_000018.10:g.55455188_55455203dup, NC_000018.10:g.55455187_55455203dup, NC_000018.10:g.55455186_55455203dup, NC_000018.10:g.55455185_55455203dup, NC_000018.10:g.55455184_55455203dup, NC_000018.10:g.55455181_55455203dup, NC_000018.10:g.55455203_55455204insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.55455203_55455204insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.55455180_55455203A[41]GAA[2]A[23], NC_000018.9:g.53122415_53122434del, NC_000018.9:g.53122420_53122434del, NC_000018.9:g.53122421_53122434del, NC_000018.9:g.53122422_53122434del, NC_000018.9:g.53122423_53122434del, NC_000018.9:g.53122424_53122434del, NC_000018.9:g.53122425_53122434del, NC_000018.9:g.53122426_53122434del, NC_000018.9:g.53122427_53122434del, NC_000018.9:g.53122428_53122434del, NC_000018.9:g.53122429_53122434del, NC_000018.9:g.53122430_53122434del, NC_000018.9:g.53122431_53122434del, NC_000018.9:g.53122432_53122434del, NC_000018.9:g.53122433_53122434del, NC_000018.9:g.53122434del, NC_000018.9:g.53122434dup, NC_000018.9:g.53122433_53122434dup, NC_000018.9:g.53122432_53122434dup, NC_000018.9:g.53122431_53122434dup, NC_000018.9:g.53122430_53122434dup, NC_000018.9:g.53122429_53122434dup, NC_000018.9:g.53122428_53122434dup, NC_000018.9:g.53122427_53122434dup, NC_000018.9:g.53122426_53122434dup, NC_000018.9:g.53122425_53122434dup, NC_000018.9:g.53122424_53122434dup, NC_000018.9:g.53122423_53122434dup, NC_000018.9:g.53122422_53122434dup, NC_000018.9:g.53122421_53122434dup, NC_000018.9:g.53122420_53122434dup, NC_000018.9:g.53122419_53122434dup, NC_000018.9:g.53122418_53122434dup, NC_000018.9:g.53122417_53122434dup, NC_000018.9:g.53122416_53122434dup, NC_000018.9:g.53122415_53122434dup, NC_000018.9:g.53122412_53122434dup, NC_000018.9:g.53122434_53122435insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.53122434_53122435insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.53122411_53122434A[41]GAA[2]A[23], NG_011716.2:g.185795_185814del, NG_011716.2:g.185800_185814del, NG_011716.2:g.185801_185814del, NG_011716.2:g.185802_185814del, NG_011716.2:g.185803_185814del, NG_011716.2:g.185804_185814del, NG_011716.2:g.185805_185814del, NG_011716.2:g.185806_185814del, NG_011716.2:g.185807_185814del, NG_011716.2:g.185808_185814del, NG_011716.2:g.185809_185814del, NG_011716.2:g.185810_185814del, NG_011716.2:g.185811_185814del, NG_011716.2:g.185812_185814del, NG_011716.2:g.185813_185814del, NG_011716.2:g.185814del, NG_011716.2:g.185814dup, NG_011716.2:g.185813_185814dup, NG_011716.2:g.185812_185814dup, NG_011716.2:g.185811_185814dup, NG_011716.2:g.185810_185814dup, NG_011716.2:g.185809_185814dup, NG_011716.2:g.185808_185814dup, NG_011716.2:g.185807_185814dup, NG_011716.2:g.185806_185814dup, NG_011716.2:g.185805_185814dup, NG_011716.2:g.185804_185814dup, NG_011716.2:g.185803_185814dup, NG_011716.2:g.185802_185814dup, NG_011716.2:g.185801_185814dup, NG_011716.2:g.185800_185814dup, NG_011716.2:g.185799_185814dup, NG_011716.2:g.185798_185814dup, NG_011716.2:g.185797_185814dup, NG_011716.2:g.185796_185814dup, NG_011716.2:g.185795_185814dup, NG_011716.2:g.185792_185814dup, NG_011716.2:g.185814_185815insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011716.2:g.185814_185815insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011716.2:g.185791_185814T[25]CTT[2]T[39]

Select item 14911905795.

rs1491190579 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:55455179 (GRCh38)
18:53122410 (GRCh37)
Canonical SPDI:: NC_000018.10:55455178:CA:
Gene:: TCF4 (Varview), TCF4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000018.10:g.55455179_55455180del, NC_000018.9:g.53122410_53122411del, NG_011716.2:g.185814_185815del

Select item 14911798116.

rs1491179811 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT [Show Flanks]
Chromosome:: 18:55463946 (GRCh38)
18:53131178 (GRCh37)
Canonical SPDI:: NC_000018.10:55463946:T:TGT,NC_000018.10:55463946:T:TGTGT,NC_000018.10:55463946:T:TGTGTGT,NC_000018.10:55463946:T:TGTGTGTGT,NC_000018.10:55463946:T:TGTGTGTGTGT
Gene:: TCF4 (Varview), TCF4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGT=0./0 (ALFA)
TGTG=0.00004/1 (TOMMO)
TG=0.02667/16 (NorthernSweden)
HGVS:: NC_000018.10:g.55463947_55463948insGT, NC_000018.10:g.55463947_55463948insGTGT, NC_000018.10:g.55463948GT[3], NC_000018.10:g.55463948GT[4], NC_000018.10:g.55463948GT[5], NC_000018.9:g.53131178_53131179insGT, NC_000018.9:g.53131178_53131179insGTGT, NC_000018.9:g.53131179GT[3], NC_000018.9:g.53131179GT[4], NC_000018.9:g.53131179GT[5], NG_011716.2:g.177047_177048insCA, NG_011716.2:g.177047_177048insCACA, NG_011716.2:g.177048CA[3], NG_011716.2:g.177048CA[4], NG_011716.2:g.177048CA[5]

Select item 14911084537.

rs1491108453 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 18:55463948 (GRCh38)
18:53131179 (GRCh37)
Canonical SPDI:: NC_000018.10:55463945:CTCT:CT
Gene:: TCF4 (Varview), TCF4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.00008/1 (ALFA)
-=0.00047/39 (GnomAD)
-=0.005/3 (NorthernSweden)
HGVS:: NC_000018.10:g.55463946CT[1], NC_000018.9:g.53131177CT[1], NG_011716.2:g.177045AG[1]

Select item 14910917828.

rs1491091782 has merged into rs1555671780 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 18:55463996 (GRCh38)
18:53131227 (GRCh37)
Canonical SPDI:: NC_000018.10:55463977:GAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGA,NC_000018.10:55463977:GAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGA,NC_000018.10:55463977:GAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGA,NC_000018.10:55463977:GAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGA,NC_000018.10:55463977:GAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000018.10:55463977:GAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000018.10:55463977:GAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000018.10:55463977:GAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: TCF4 (Varview), TCF4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAGAGAGAGAGAGA=0./0 (ALFA)
GAGA=0.00109/2 (Korea1K)
GAGA=0.00333/2 (NorthernSweden)
HGVS:: NC_000018.10:g.55463978GA[9], NC_000018.10:g.55463978GA[10], NC_000018.10:g.55463978GA[11], NC_000018.10:g.55463978GA[12], NC_000018.10:g.55463978GA[14], NC_000018.10:g.55463978GA[15], NC_000018.10:g.55463978GA[16], NC_000018.10:g.55463978GA[17], NC_000018.9:g.53131209GA[9], NC_000018.9:g.53131209GA[10], NC_000018.9:g.53131209GA[11], NC_000018.9:g.53131209GA[12], NC_000018.9:g.53131209GA[14], NC_000018.9:g.53131209GA[15], NC_000018.9:g.53131209GA[16], NC_000018.9:g.53131209GA[17], NG_011716.2:g.176991TC[9], NG_011716.2:g.176991TC[10], NG_011716.2:g.176991TC[11], NG_011716.2:g.176991TC[12], NG_011716.2:g.176991TC[14], NG_011716.2:g.176991TC[15], NG_011716.2:g.176991TC[16], NG_011716.2:g.176991TC[17]

Select item 14907339759.

rs1490733975 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:55475342 (GRCh38)
18:53142573 (GRCh37)
Canonical SPDI:: NC_000018.10:55475341:T:A
Gene:: TCF4 (Varview), TCF4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.55475342T>A, NC_000018.9:g.53142573T>A, NG_011716.2:g.165652A>T

Select item 149064538510.

rs1490645385 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 18:55483274 (GRCh38)
18:53150505 (GRCh37)
Canonical SPDI:: NC_000018.10:55483273:A:T
Gene:: TCF4 (Varview), TCF4-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.55483274A>T, NC_000018.9:g.53150505A>T, NG_011716.2:g.157720T>A

Select item 149062564911.

rs1490625649 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:55451044 (GRCh38)
18:53118275 (GRCh37)
Canonical SPDI:: NC_000018.10:55451043:T:C
Gene:: TCF4 (Varview), TCF4-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.55451044T>C, NC_000018.9:g.53118275T>C, NG_011716.2:g.189950A>G

Select item 149057554812.

rs1490575548 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:55468123 (GRCh38)
18:53135354 (GRCh37)
Canonical SPDI:: NC_000018.10:55468122:C:A
Gene:: TCF4 (Varview), TCF4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000018.10:g.55468123C>A, NC_000018.9:g.53135354C>A, NG_011716.2:g.172871G>T

Select item 149054753513.

rs1490547535 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:55471252 (GRCh38)
18:53138483 (GRCh37)
Canonical SPDI:: NC_000018.10:55471251:G:A
Gene:: TCF4 (Varview), TCF4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000071/2 (TOMMO)
HGVS:: NC_000018.10:g.55471252G>A, NC_000018.9:g.53138483G>A, NG_011716.2:g.169742C>T

Select item 149046113514.

rs1490461135 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 18:55476141 (GRCh38)
18:53143372 (GRCh37)
Canonical SPDI:: NC_000018.10:55476140:A:C
Gene:: TCF4 (Varview), TCF4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000018.10:g.55476141A>C, NC_000018.9:g.53143372A>C, NG_011716.2:g.164853T>G

Select item 149037785415.

rs1490377854 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:55460312 (GRCh38)
18:53127543 (GRCh37)
Canonical SPDI:: NC_000018.10:55460311:T:C
Gene:: TCF4 (Varview), TCF4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.55460312T>C, NC_000018.9:g.53127543T>C, NG_011716.2:g.180682A>G

Select item 149031763716.

rs1490317637 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:55481965 (GRCh38)
18:53149196 (GRCh37)
Canonical SPDI:: NC_000018.10:55481964:C:G
Gene:: TCF4 (Varview), TCF4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000018.10:g.55481965C>G, NC_000018.9:g.53149196C>G, NG_011716.2:g.159029G>C

Select item 149002944417.

rs1490029444 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:55459634 (GRCh38)
18:53126865 (GRCh37)
Canonical SPDI:: NC_000018.10:55459633:T:C
Gene:: TCF4 (Varview), TCF4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.00007/2 (TOMMO)
C=0.00137/4 (KOREAN)
HGVS:: NC_000018.10:g.55459634T>C, NC_000018.9:g.53126865T>C, NG_011716.2:g.181360A>G

Select item 148972959918.

rs1489729599 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:55479319 (GRCh38)
18:53146550 (GRCh37)
Canonical SPDI:: NC_000018.10:55479318:A:G
Gene:: TCF4 (Varview), MIR4529 (Varview), TCF4-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.55479319A>G, NC_000018.9:g.53146550A>G, NG_011716.2:g.161675T>C

Select item 148972265819.

rs1489722658 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 18:55467632 (GRCh38)
18:53134864 (GRCh37)
Canonical SPDI:: NC_000018.10:55467632:T:TT
Gene:: TCF4 (Varview), TCF4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000049/13 (TOPMED)
HGVS:: NC_000018.10:g.55467633dup, NC_000018.9:g.53134864dup, NG_011716.2:g.173361dup

Select item 148968811920.

rs1489688119 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:55452764 (GRCh38)
18:53119995 (GRCh37)
Canonical SPDI:: NC_000018.10:55452763:T:C
Gene:: TCF4 (Varview), TCF4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.55452764T>C, NC_000018.9:g.53119995T>C, NG_011716.2:g.188230A>G

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