SNP Links for Gene (Select 9095) - SNP

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Select item 14914670731.

rs1491467073 has merged into rs57039241 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 1:168293303 (GRCh38)
1:168262541 (GRCh37)
Canonical SPDI:: NC_000001.11:168293284:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000001.11:168293284:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000001.11:168293284:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:168293284:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:168293284:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:168293284:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:168293284:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:168293284:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:168293284:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:168293284:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:168293284:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:168293284:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:168293284:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:168293284:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:168293284:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:168293284:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:168293284:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:168293284:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:168293284:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:168293284:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:168293284:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:168293284:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: TBX19 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: uncertain-significance,benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000001.11:g.168293285GT[9], NC_000001.11:g.168293285GT[10], NC_000001.11:g.168293285GT[11], NC_000001.11:g.168293285GT[12], NC_000001.11:g.168293285GT[13], NC_000001.11:g.168293285GT[14], NC_000001.11:g.168293285GT[15], NC_000001.11:g.168293285GT[16], NC_000001.11:g.168293285GT[17], NC_000001.11:g.168293285GT[18], NC_000001.11:g.168293285GT[19], NC_000001.11:g.168293285GT[20], NC_000001.11:g.168293285GT[22], NC_000001.11:g.168293285GT[23], NC_000001.11:g.168293285GT[24], NC_000001.11:g.168293285GT[25], NC_000001.11:g.168293285GT[26], NC_000001.11:g.168293285GT[27], NC_000001.11:g.168293285GT[28], NC_000001.11:g.168293285GT[29], NC_000001.11:g.168293285GT[30], NC_000001.11:g.168293285GT[31], NC_000001.10:g.168262523GT[9], NC_000001.10:g.168262523GT[10], NC_000001.10:g.168262523GT[11], NC_000001.10:g.168262523GT[12], NC_000001.10:g.168262523GT[13], NC_000001.10:g.168262523GT[14], NC_000001.10:g.168262523GT[15], NC_000001.10:g.168262523GT[16], NC_000001.10:g.168262523GT[17], NC_000001.10:g.168262523GT[18], NC_000001.10:g.168262523GT[19], NC_000001.10:g.168262523GT[20], NC_000001.10:g.168262523GT[22], NC_000001.10:g.168262523GT[23], NC_000001.10:g.168262523GT[24], NC_000001.10:g.168262523GT[25], NC_000001.10:g.168262523GT[26], NC_000001.10:g.168262523GT[27], NC_000001.10:g.168262523GT[28], NC_000001.10:g.168262523GT[29], NC_000001.10:g.168262523GT[30], NC_000001.10:g.168262523GT[31], NG_008244.1:g.17246GT[9], NG_008244.1:g.17246GT[10], NG_008244.1:g.17246GT[11], NG_008244.1:g.17246GT[12], NG_008244.1:g.17246GT[13], NG_008244.1:g.17246GT[14], NG_008244.1:g.17246GT[15], NG_008244.1:g.17246GT[16], NG_008244.1:g.17246GT[17], NG_008244.1:g.17246GT[18], NG_008244.1:g.17246GT[19], NG_008244.1:g.17246GT[20], NG_008244.1:g.17246GT[22], NG_008244.1:g.17246GT[23], NG_008244.1:g.17246GT[24], NG_008244.1:g.17246GT[25], NG_008244.1:g.17246GT[26], NG_008244.1:g.17246GT[27], NG_008244.1:g.17246GT[28], NG_008244.1:g.17246GT[29], NG_008244.1:g.17246GT[30], NG_008244.1:g.17246GT[31]

Select item 14914397052.

rs1491439705 has merged into rs146281397 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:168284781 (GRCh38)
1:168254019 (GRCh37)
Canonical SPDI:: NC_000001.11:168284768:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:168284768:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:168284768:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:168284768:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:168284768:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:168284768:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:168284768:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:168284768:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:168284768:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:168284768:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:168284768:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:168284768:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:168284768:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:168284768:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:168284768:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:168284768:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:168284768:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:168284768:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:168284768:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:168284768:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:168284768:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TBX19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000001.11:g.168284781_168284793del, NC_000001.11:g.168284782_168284793del, NC_000001.11:g.168284784_168284793del, NC_000001.11:g.168284785_168284793del, NC_000001.11:g.168284786_168284793del, NC_000001.11:g.168284787_168284793del, NC_000001.11:g.168284788_168284793del, NC_000001.11:g.168284789_168284793del, NC_000001.11:g.168284790_168284793del, NC_000001.11:g.168284791_168284793del, NC_000001.11:g.168284792_168284793del, NC_000001.11:g.168284793del, NC_000001.11:g.168284793dup, NC_000001.11:g.168284792_168284793dup, NC_000001.11:g.168284791_168284793dup, NC_000001.11:g.168284790_168284793dup, NC_000001.11:g.168284789_168284793dup, NC_000001.11:g.168284788_168284793dup, NC_000001.11:g.168284787_168284793dup, NC_000001.11:g.168284786_168284793dup, NC_000001.11:g.168284784_168284793dup, NC_000001.10:g.168254019_168254031del, NC_000001.10:g.168254020_168254031del, NC_000001.10:g.168254022_168254031del, NC_000001.10:g.168254023_168254031del, NC_000001.10:g.168254024_168254031del, NC_000001.10:g.168254025_168254031del, NC_000001.10:g.168254026_168254031del, NC_000001.10:g.168254027_168254031del, NC_000001.10:g.168254028_168254031del, NC_000001.10:g.168254029_168254031del, NC_000001.10:g.168254030_168254031del, NC_000001.10:g.168254031del, NC_000001.10:g.168254031dup, NC_000001.10:g.168254030_168254031dup, NC_000001.10:g.168254029_168254031dup, NC_000001.10:g.168254028_168254031dup, NC_000001.10:g.168254027_168254031dup, NC_000001.10:g.168254026_168254031dup, NC_000001.10:g.168254025_168254031dup, NC_000001.10:g.168254024_168254031dup, NC_000001.10:g.168254022_168254031dup, NG_008244.1:g.8742_8754del, NG_008244.1:g.8743_8754del, NG_008244.1:g.8745_8754del, NG_008244.1:g.8746_8754del, NG_008244.1:g.8747_8754del, NG_008244.1:g.8748_8754del, NG_008244.1:g.8749_8754del, NG_008244.1:g.8750_8754del, NG_008244.1:g.8751_8754del, NG_008244.1:g.8752_8754del, NG_008244.1:g.8753_8754del, NG_008244.1:g.8754del, NG_008244.1:g.8754dup, NG_008244.1:g.8753_8754dup, NG_008244.1:g.8752_8754dup, NG_008244.1:g.8751_8754dup, NG_008244.1:g.8750_8754dup, NG_008244.1:g.8749_8754dup, NG_008244.1:g.8748_8754dup, NG_008244.1:g.8747_8754dup, NG_008244.1:g.8745_8754dup

Select item 14914074573.

rs1491407457 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 1:168298821 (GRCh38)
1:168268059 (GRCh37)
Canonical SPDI:: NC_000001.11:168298820:TC:
Gene:: TBX19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000001.11:g.168298821_168298822del, NC_000001.10:g.168268059_168268060del, NG_008244.1:g.22782_22783del

Select item 14913501264.

rs1491350126 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:168298820 (GRCh38)
1:168268058 (GRCh37)
Canonical SPDI:: NC_000001.11:168298819:TT:
Gene:: TBX19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00007/3 (GnomAD)
HGVS:: NC_000001.11:g.168298820_168298821del, NC_000001.10:g.168268058_168268059del, NG_008244.1:g.22781_22782del

Select item 14913440915.

rs1491344091 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC,CCCC,CCTCCC,CCTCCCCC,CCTCCCTCCC,CCTCCCTCCCTCCC,CCTCCCTCCCTCCCTCCC [Show Flanks]
Chromosome:: 1:168298822 (GRCh38)
1:168268060 (GRCh37)
Canonical SPDI:: NC_000001.11:168298821:CC:C,NC_000001.11:168298821:CC:CCC,NC_000001.11:168298821:CC:CCCCC,NC_000001.11:168298821:CC:CCCTCCC,NC_000001.11:168298821:CC:CCCTCCCCC,NC_000001.11:168298821:CC:CCCTCCCTCCC,NC_000001.11:168298821:CC:CCCTCCCTCCCTCCC,NC_000001.11:168298821:CC:CCCTCCCTCCCTCCCTCCC
Gene:: TBX19 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.168298823del, NC_000001.11:g.168298823dup, NC_000001.11:g.168298823_168298824insCCC, NC_000001.11:g.168298823_168298824insCTCCC, NC_000001.11:g.168298823_168298824insCTCCCCC, NC_000001.11:g.168298822_168298823CCCT[2]CCC[1], NC_000001.11:g.168298822_168298823CCCT[3]CCC[1], NC_000001.11:g.168298822_168298823CCCT[4]CCC[1], NC_000001.10:g.168268061del, NC_000001.10:g.168268061dup, NC_000001.10:g.168268061_168268062insCCC, NC_000001.10:g.168268061_168268062insCTCCC, NC_000001.10:g.168268061_168268062insCTCCCCC, NC_000001.10:g.168268060_168268061CCCT[2]CCC[1], NC_000001.10:g.168268060_168268061CCCT[3]CCC[1], NC_000001.10:g.168268060_168268061CCCT[4]CCC[1], NG_008244.1:g.22784del, NG_008244.1:g.22784dup, NG_008244.1:g.22784_22785insCCC, NG_008244.1:g.22784_22785insCTCCC, NG_008244.1:g.22784_22785insCTCCCCC, NG_008244.1:g.22783_22784CCCT[2]CCC[1], NG_008244.1:g.22783_22784CCCT[3]CCC[1], NG_008244.1:g.22783_22784CCCT[4]CCC[1]

Select item 14913053716.

rs1491305371 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CC,CCC,CCCC,CCCTCC,CCCTCCC,CCCTCCCTCC,CCCTCCCTCCC,CCCTCCCTCCCTCCC,CCCTCCCTCCCTCCCTCCC,CCCTCCCTCCCTCCCTCCCC [Show Flanks]
Chromosome:: 1:168298820 (GRCh38)
1:168268059 (GRCh37)
Canonical SPDI:: NC_000001.11:168298820::C,NC_000001.11:168298820::CC,NC_000001.11:168298820::CCC,NC_000001.11:168298820::CCCC,NC_000001.11:168298820::CCCTCC,NC_000001.11:168298820::CCCTCCC,NC_000001.11:168298820::CCCTCCCTCC,NC_000001.11:168298820::CCCTCCCTCCC,NC_000001.11:168298820::CCCTCCCTCCCTCCC,NC_000001.11:168298820::CCCTCCCTCCCTCCCTCCC,NC_000001.11:168298820::CCCTCCCTCCCTCCCTCCCC
Gene:: TBX19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000001.11:g.168298820_168298821insC, NC_000001.11:g.168298820_168298821insCC, NC_000001.11:g.168298820_168298821insCCC, NC_000001.11:g.168298820_168298821insCCCC, NC_000001.11:g.168298820_168298821insCCCTCC, NC_000001.11:g.168298820_168298821insCCCTCCC, NC_000001.11:g.168298820_168298821insCCCTCCCTCC, NC_000001.11:g.168298820_168298821insCCCTCCCTCCC, NC_000001.11:g.168298820_168298821insCCCTCCCTCCCTCCC, NC_000001.11:g.168298820_168298821insCCCTCCCTCCCTCCCTCCC, NC_000001.11:g.168298820_168298821insCCCTCCCTCCCTCCCTCCCC, NC_000001.10:g.168268058_168268059insC, NC_000001.10:g.168268058_168268059insCC, NC_000001.10:g.168268058_168268059insCCC, NC_000001.10:g.168268058_168268059insCCCC, NC_000001.10:g.168268058_168268059insCCCTCC, NC_000001.10:g.168268058_168268059insCCCTCCC, NC_000001.10:g.168268058_168268059insCCCTCCCTCC, NC_000001.10:g.168268058_168268059insCCCTCCCTCCC, NC_000001.10:g.168268058_168268059insCCCTCCCTCCCTCCC, NC_000001.10:g.168268058_168268059insCCCTCCCTCCCTCCCTCCC, NC_000001.10:g.168268058_168268059insCCCTCCCTCCCTCCCTCCCC, NG_008244.1:g.22781_22782insC, NG_008244.1:g.22781_22782insCC, NG_008244.1:g.22781_22782insCCC, NG_008244.1:g.22781_22782insCCCC, NG_008244.1:g.22781_22782insCCCTCC, NG_008244.1:g.22781_22782insCCCTCCC, NG_008244.1:g.22781_22782insCCCTCCCTCC, NG_008244.1:g.22781_22782insCCCTCCCTCCC, NG_008244.1:g.22781_22782insCCCTCCCTCCCTCCC, NG_008244.1:g.22781_22782insCCCTCCCTCCCTCCCTCCC, NG_008244.1:g.22781_22782insCCCTCCCTCCCTCCCTCCCC

Select item 14912984687.

rs1491298468 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCCT,CCT,CCTTTCCT,CCTTTCCTTCCT,CCTTTCCTTCCTTCCT [Show Flanks]
Chromosome:: 1:168298824 (GRCh38)
1:168268063 (GRCh37)
Canonical SPDI:: NC_000001.11:168298824:T:TCCCT,NC_000001.11:168298824:T:TCCT,NC_000001.11:168298824:T:TCCTTTCCT,NC_000001.11:168298824:T:TCCTTTCCTTCCT,NC_000001.11:168298824:T:TCCTTTCCTTCCTTCCT
Gene:: TBX19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCCT=0./0 (ALFA)
TCC=0.0004/5 (GnomAD)
HGVS:: NC_000001.11:g.168298825_168298826insCCCT, NC_000001.11:g.168298825_168298826insCCT, NC_000001.11:g.168298825_168298826insCCTTTCCT, NC_000001.11:g.168298825TCCTT[2]CCT[1], NC_000001.11:g.168298825TCCTT[2]CCTTCCT[1], NC_000001.10:g.168268063_168268064insCCCT, NC_000001.10:g.168268063_168268064insCCT, NC_000001.10:g.168268063_168268064insCCTTTCCT, NC_000001.10:g.168268063TCCTT[2]CCT[1], NC_000001.10:g.168268063TCCTT[2]CCTTCCT[1], NG_008244.1:g.22786_22787insCCCT, NG_008244.1:g.22786_22787insCCT, NG_008244.1:g.22786_22787insCCTTTCCT, NG_008244.1:g.22786TCCTT[2]CCT[1], NG_008244.1:g.22786TCCTT[2]CCTTCCT[1]

Select item 14912328348.

rs1491232834 has merged into rs761737707 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCCC [Show Flanks]
Chromosome:: 1:168285302 (GRCh38)
1:168254540 (GRCh37)
Canonical SPDI:: NC_000001.11:168285299:CCCC:CC,NC_000001.11:168285299:CCCC:CCCCCC
Gene:: TBX19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
-=0.000049/6 (GnomAD)
-=0.004152/16 (ALSPAC)
-=0.011866/44 (TWINSUK)
HGVS:: NC_000001.11:g.168285302_168285303del, NC_000001.11:g.168285302_168285303dup, NC_000001.10:g.168254540_168254541del, NC_000001.10:g.168254540_168254541dup, NG_008244.1:g.9263_9264del, NG_008244.1:g.9263_9264dup

Select item 14911314749.

rs1491131474 has merged into rs200936552 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 1:168288283 (GRCh38)
1:168257521 (GRCh37)
Canonical SPDI:: NC_000001.11:168288274:TTTTTTTTTT:TTTTTTTT,NC_000001.11:168288274:TTTTTTTTTT:TTTTTTTTT,NC_000001.11:168288274:TTTTTTTTTT:TTTTTTTTTTT
Gene:: TBX19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.00198/3 (Korea1K)
HGVS:: NC_000001.11:g.168288283_168288284del, NC_000001.11:g.168288284del, NC_000001.11:g.168288284dup, NC_000001.10:g.168257521_168257522del, NC_000001.10:g.168257522del, NC_000001.10:g.168257522dup, NG_008244.1:g.12244_12245del, NG_008244.1:g.12245del, NG_008244.1:g.12245dup

Select item 149109148010.

rs1491091480 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:168284768 (GRCh38)
1:168254006 (GRCh37)
Canonical SPDI:: NC_000001.11:168284767:CA:
Gene:: TBX19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0446/529 (ALFA)
-=0.00411/68 (TOMMO)
HGVS:: NC_000001.11:g.168284768_168284769del, NC_000001.10:g.168254006_168254007del, NG_008244.1:g.8729_8730del

Select item 149088665811.

rs1490886658 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:168313077 (GRCh38)
1:168282315 (GRCh37)
Canonical SPDI:: NC_000001.11:168313076:A:G
Gene:: TBX19 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.168313077A>G, NC_000001.10:g.168282315A>G, NG_008244.1:g.37038A>G, NM_005149.3:c.*75A>G, NM_005149.2:c.*75A>G

Select item 149076103612.

rs1490761036 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:168305107 (GRCh38)
1:168274345 (GRCh37)
Canonical SPDI:: NC_000001.11:168305106:A:C,NC_000001.11:168305106:A:G
Gene:: TBX19 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.168305107A>C, NC_000001.11:g.168305107A>G, NC_000001.10:g.168274345A>C, NC_000001.10:g.168274345A>G, NG_008244.1:g.29068A>C, NG_008244.1:g.29068A>G, NM_005149.3:c.827A>C, NM_005149.3:c.827A>G, NM_005149.2:c.827A>C, NM_005149.2:c.827A>G, NP_005140.1:p.His276Pro, NP_005140.1:p.His276Arg

Select item 149073399913.

rs1490733999 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:168303876 (GRCh38)
1:168273114 (GRCh37)
Canonical SPDI:: NC_000001.11:168303875:G:A,NC_000001.11:168303875:G:T
Gene:: TBX19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.168303876G>A, NC_000001.11:g.168303876G>T, NC_000001.10:g.168273114G>A, NC_000001.10:g.168273114G>T, NG_008244.1:g.27837G>A, NG_008244.1:g.27837G>T

Select item 149059685314.

rs1490596853 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:168304543 (GRCh38)
1:168273781 (GRCh37)
Canonical SPDI:: NC_000001.11:168304542:A:C
Gene:: TBX19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.168304543A>C, NC_000001.10:g.168273781A>C, NG_008244.1:g.28504A>C

Select item 149059139515.

rs1490591395 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:168281429 (GRCh38)
1:168250667 (GRCh37)
Canonical SPDI:: NC_000001.11:168281428:C:A,NC_000001.11:168281428:C:T
Gene:: TBX19 (Varview)
Functional Consequence:: intron_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_000001.11:g.168281429C>A, NC_000001.11:g.168281429C>T, NC_000001.10:g.168250667C>A, NC_000001.10:g.168250667C>T, NG_008244.1:g.5390C>A, NG_008244.1:g.5390C>T

Select item 149050873016.

rs1490508730 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:168311962 (GRCh38)
1:168281200 (GRCh37)
Canonical SPDI:: NC_000001.11:168311961:G:C
Gene:: TBX19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.168311962G>C, NC_000001.10:g.168281200G>C, NG_008244.1:g.35923G>C

Select item 149048728817.

rs1490487288 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:168291277 (GRCh38)
1:168260515 (GRCh37)
Canonical SPDI:: NC_000001.11:168291276:A:G
Gene:: TBX19 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.168291277A>G, NC_000001.10:g.168260515A>G, NG_008244.1:g.15238A>G, NM_005149.3:c.321A>G, NM_005149.2:c.321A>G

Select item 149046479018.

rs1490464790 has merged into rs35774547 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 1:168310304 (GRCh38)
1:168279542 (GRCh37)
Canonical SPDI:: NC_000001.11:168310297:AAAAAAAAAAAAA:AAAAAA,NC_000001.11:168310297:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:168310297:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:168310297:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:168310297:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:168310297:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: TBX19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000094/25 (TOPMED)
A=0.1/4 (GENOME_DK)
HGVS:: NC_000001.11:g.168310304_168310310del, NC_000001.11:g.168310308_168310310del, NC_000001.11:g.168310309_168310310del, NC_000001.11:g.168310310del, NC_000001.11:g.168310310dup, NC_000001.11:g.168310309_168310310dup, NC_000001.10:g.168279542_168279548del, NC_000001.10:g.168279546_168279548del, NC_000001.10:g.168279547_168279548del, NC_000001.10:g.168279548del, NC_000001.10:g.168279548dup, NC_000001.10:g.168279547_168279548dup, NG_008244.1:g.34265_34271del, NG_008244.1:g.34269_34271del, NG_008244.1:g.34270_34271del, NG_008244.1:g.34271del, NG_008244.1:g.34271dup, NG_008244.1:g.34270_34271dup

Select item 149031746419.

rs1490317464 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:168296795 (GRCh38)
1:168266033 (GRCh37)
Canonical SPDI:: NC_000001.11:168296794:A:T
Gene:: TBX19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.168296795A>T, NC_000001.10:g.168266033A>T, NG_008244.1:g.20756A>T

Select item 149029219520.

rs1490292195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:168295761 (GRCh38)
1:168264999 (GRCh37)
Canonical SPDI:: NC_000001.11:168295760:G:C
Gene:: TBX19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.168295761G>C, NC_000001.10:g.168264999G>C, NG_008244.1:g.19722G>C

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