Links from Nucleotide
Items: 1 to 20 of 11687
1.
rs1491448508 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 7:35242860
(GRCh38)
7:35282472
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35242859:AA:
- Gene:
- TBX20 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491314293 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATGTGTGTGT
[Show Flanks]
- Chromosome:
- 7:35245320
(GRCh38)
7:35284933
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35245320:TGTGTGTGT:TGTGTGTGTATGTGTGTGT
- Gene:
- TBX20 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTATGTGTGTGT=0./0
(
ALFA)
TGTGTGTGTA=0.000004/1
(TOPMED)
TGTGTGTGTA=0.001748/1
(GnomAD)
- HGVS:
3.
rs1491257719 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 7:35221292
(GRCh38)
7:35260904
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35221291:TG:
- Gene:
- TBX20 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0005/2
(TWINSUK)
-=0.001/4
(ALSPAC)
- HGVS:
4.
rs1491218258 has merged into rs61706700 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 7:35245336
(GRCh38)
7:35284948
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35245319:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000007.14:35245319:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000007.14:35245319:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35245319:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35245319:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35245319:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35245319:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35245319:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35245319:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35245319:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35245319:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35245319:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35245319:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35245319:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35245319:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35245319:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35245319:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- TBX20 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.1733/868
(1000Genomes)
- HGVS:
NC_000007.14:g.35245320GT[8], NC_000007.14:g.35245320GT[10], NC_000007.14:g.35245320GT[11], NC_000007.14:g.35245320GT[12], NC_000007.14:g.35245320GT[13], NC_000007.14:g.35245320GT[14], NC_000007.14:g.35245320GT[16], NC_000007.14:g.35245320GT[17], NC_000007.14:g.35245320GT[18], NC_000007.14:g.35245320GT[19], NC_000007.14:g.35245320GT[20], NC_000007.14:g.35245320GT[21], NC_000007.14:g.35245320GT[22], NC_000007.14:g.35245320GT[23], NC_000007.14:g.35245320GT[24], NC_000007.14:g.35245320GT[25], NC_000007.14:g.35245320GT[26], NC_000007.13:g.35284932GT[8], NC_000007.13:g.35284932GT[10], NC_000007.13:g.35284932GT[11], NC_000007.13:g.35284932GT[12], NC_000007.13:g.35284932GT[13], NC_000007.13:g.35284932GT[14], NC_000007.13:g.35284932GT[16], NC_000007.13:g.35284932GT[17], NC_000007.13:g.35284932GT[18], NC_000007.13:g.35284932GT[19], NC_000007.13:g.35284932GT[20], NC_000007.13:g.35284932GT[21], NC_000007.13:g.35284932GT[22], NC_000007.13:g.35284932GT[23], NC_000007.13:g.35284932GT[24], NC_000007.13:g.35284932GT[25], NC_000007.13:g.35284932GT[26], NG_015805.1:g.13751AC[8], NG_015805.1:g.13751AC[10], NG_015805.1:g.13751AC[11], NG_015805.1:g.13751AC[12], NG_015805.1:g.13751AC[13], NG_015805.1:g.13751AC[14], NG_015805.1:g.13751AC[16], NG_015805.1:g.13751AC[17], NG_015805.1:g.13751AC[18], NG_015805.1:g.13751AC[19], NG_015805.1:g.13751AC[20], NG_015805.1:g.13751AC[21], NG_015805.1:g.13751AC[22], NG_015805.1:g.13751AC[23], NG_015805.1:g.13751AC[24], NG_015805.1:g.13751AC[25], NG_015805.1:g.13751AC[26]
5.
rs1491152343 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AG
[Show Flanks]
- Chromosome:
- 7:35242860
(GRCh38)
7:35282473
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35242860:AGAGAG:AGAGAGAG
- Gene:
- TBX20 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAG=0./0
(
ALFA)
AG=0.000004/1
(TOPMED)
AG=0.000007/1
(GnomAD)
- HGVS:
7.
rs1491080231 has merged into rs59548164 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:35213891
(GRCh38)
7:35253503
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35213877:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TBX20 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000007.14:g.35213891_35213901del, NC_000007.14:g.35213893_35213901del, NC_000007.14:g.35213894_35213901del, NC_000007.14:g.35213895_35213901del, NC_000007.14:g.35213896_35213901del, NC_000007.14:g.35213897_35213901del, NC_000007.14:g.35213898_35213901del, NC_000007.14:g.35213899_35213901del, NC_000007.14:g.35213900_35213901del, NC_000007.14:g.35213901del, NC_000007.14:g.35213901dup, NC_000007.14:g.35213900_35213901dup, NC_000007.14:g.35213899_35213901dup, NC_000007.14:g.35213898_35213901dup, NC_000007.14:g.35213897_35213901dup, NC_000007.14:g.35213896_35213901dup, NC_000007.14:g.35213895_35213901dup, NC_000007.14:g.35213894_35213901dup, NC_000007.14:g.35213893_35213901dup, NC_000007.14:g.35213892_35213901dup, NC_000007.14:g.35213891_35213901dup, NC_000007.14:g.35213890_35213901dup, NC_000007.14:g.35213889_35213901dup, NC_000007.14:g.35213888_35213901dup, NC_000007.14:g.35213887_35213901dup, NC_000007.14:g.35213886_35213901dup, NC_000007.14:g.35213885_35213901dup, NC_000007.14:g.35213884_35213901dup, NC_000007.14:g.35213883_35213901dup, NC_000007.14:g.35213881_35213901dup, NC_000007.14:g.35213880_35213901dup, NC_000007.14:g.35213879_35213901dup, NC_000007.14:g.35213901_35213902insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.35213901_35213902insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.35213901_35213902insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.35213901_35213902insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.35213901_35213902insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.35213901_35213902insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.35213901_35213902insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.35213901_35213902insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.35213901_35213902insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.35213901_35213902insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.35213901_35213902insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.35253503_35253513del, NC_000007.13:g.35253505_35253513del, NC_000007.13:g.35253506_35253513del, NC_000007.13:g.35253507_35253513del, NC_000007.13:g.35253508_35253513del, NC_000007.13:g.35253509_35253513del, NC_000007.13:g.35253510_35253513del, NC_000007.13:g.35253511_35253513del, NC_000007.13:g.35253512_35253513del, NC_000007.13:g.35253513del, NC_000007.13:g.35253513dup, NC_000007.13:g.35253512_35253513dup, NC_000007.13:g.35253511_35253513dup, NC_000007.13:g.35253510_35253513dup, NC_000007.13:g.35253509_35253513dup, NC_000007.13:g.35253508_35253513dup, NC_000007.13:g.35253507_35253513dup, NC_000007.13:g.35253506_35253513dup, NC_000007.13:g.35253505_35253513dup, NC_000007.13:g.35253504_35253513dup, NC_000007.13:g.35253503_35253513dup, NC_000007.13:g.35253502_35253513dup, NC_000007.13:g.35253501_35253513dup, NC_000007.13:g.35253500_35253513dup, NC_000007.13:g.35253499_35253513dup, NC_000007.13:g.35253498_35253513dup, NC_000007.13:g.35253497_35253513dup, NC_000007.13:g.35253496_35253513dup, NC_000007.13:g.35253495_35253513dup, NC_000007.13:g.35253493_35253513dup, NC_000007.13:g.35253492_35253513dup, NC_000007.13:g.35253491_35253513dup, NC_000007.13:g.35253513_35253514insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.35253513_35253514insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.35253513_35253514insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.35253513_35253514insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.35253513_35253514insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.35253513_35253514insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.35253513_35253514insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.35253513_35253514insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.35253513_35253514insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.35253513_35253514insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.35253513_35253514insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_015805.1:g.45212_45222del, NG_015805.1:g.45214_45222del, NG_015805.1:g.45215_45222del, NG_015805.1:g.45216_45222del, NG_015805.1:g.45217_45222del, NG_015805.1:g.45218_45222del, NG_015805.1:g.45219_45222del, NG_015805.1:g.45220_45222del, NG_015805.1:g.45221_45222del, NG_015805.1:g.45222del, NG_015805.1:g.45222dup, NG_015805.1:g.45221_45222dup, NG_015805.1:g.45220_45222dup, NG_015805.1:g.45219_45222dup, NG_015805.1:g.45218_45222dup, NG_015805.1:g.45217_45222dup, NG_015805.1:g.45216_45222dup, NG_015805.1:g.45215_45222dup, NG_015805.1:g.45214_45222dup, NG_015805.1:g.45213_45222dup, NG_015805.1:g.45212_45222dup, NG_015805.1:g.45211_45222dup, NG_015805.1:g.45210_45222dup, NG_015805.1:g.45209_45222dup, NG_015805.1:g.45208_45222dup, NG_015805.1:g.45207_45222dup, NG_015805.1:g.45206_45222dup, NG_015805.1:g.45205_45222dup, NG_015805.1:g.45204_45222dup, NG_015805.1:g.45202_45222dup, NG_015805.1:g.45201_45222dup, NG_015805.1:g.45200_45222dup, NG_015805.1:g.45222_45223insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_015805.1:g.45222_45223insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_015805.1:g.45222_45223insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_015805.1:g.45222_45223insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_015805.1:g.45222_45223insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_015805.1:g.45222_45223insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_015805.1:g.45222_45223insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_015805.1:g.45222_45223insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_015805.1:g.45222_45223insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_015805.1:g.45222_45223insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_015805.1:g.45222_45223insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
8.
rs1490829136 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:35258257
(GRCh38)
7:35297868
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35258256:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
9.
rs1490808859 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:35212964
(GRCh38)
7:35252576
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35212963:A:G
- Gene:
- TBX20 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000035/1
(TOMMO)
G=0.000086/12
(GnomAD)
- HGVS:
10.
rs1490784186 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 7:35226948
(GRCh38)
7:35266560
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35226947:T:A
- Gene:
- TBX20 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490756259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 7:35252265
(GRCh38)
7:35291876
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35252264:T:A
- Gene:
- TBX20 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
12.
rs1490710259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 7:35209727
(GRCh38)
7:35249339
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35209726:T:A
- Gene:
- TBX20 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490692895 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 7:35225978
(GRCh38)
7:35265590
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35225977:T:G
- Gene:
- TBX20 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0./0
(KOREAN)
G=0.000008/2
(TOPMED)
- HGVS:
14.
rs1490617127 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:35254503
(GRCh38)
7:35294114
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35254502:T:C
- Gene:
- TBX20 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
15.
rs1490604392 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:35217286
(GRCh38)
7:35256898
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35217285:A:G
- Gene:
- TBX20 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490526293 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:35200701
(GRCh38)
7:35240313
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35200700:G:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490481002 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 7:35209067
(GRCh38)
7:35248679
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35209066:C:A
- Gene:
- TBX20 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
18.
rs1490475861 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:35233412
(GRCh38)
7:35273024
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35233411:T:C
- Gene:
- TBX20 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000036/5
(GnomAD)
- HGVS:
20.
rs1490423411 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 7:35236231
(GRCh38)
7:35275843
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35236230:A:C
- Gene:
- TBX20 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000035/1
(TOMMO)
C=0.000342/1
(KOREAN)
C=0.000546/1
(Korea1K)
- HGVS: