SNP Links for Gene (Select 3842) - SNP

Links from Gene

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Select item 14915199221.

rs1491519922 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:72881143 (GRCh38)
5:72176971 (GRCh37)
Canonical SPDI:: NC_000005.10:72881143::A
Gene:: TNPO1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.72881143_72881144insA, NC_000005.9:g.72176970_72176971insA

Select item 14915181972.

rs1491518197 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CTTTTTTTT
Chromosome:: no mapping
Canonical SPDI:

Select item 14915026403.

rs1491502640 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:72877094 (GRCh38)
5:72172921 (GRCh37)
Canonical SPDI:: NC_000005.10:72877093:CA:
Gene:: TNPO1 (Varview), MIR4804 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.0011/13 (ALFA)
HGVS:: NC_000005.10:g.72877094_72877095del, NC_000005.9:g.72172921_72172922del

Select item 14914675444.

rs1491467544 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,G [Show Flanks]
Chromosome:: 5:72857317 (GRCh38)
5:72153145 (GRCh37)
Canonical SPDI:: NC_000005.10:72857317::C,NC_000005.10:72857317::G
Gene:: TNPO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000094/7 (GnomAD)
HGVS:: NC_000005.10:g.72857317_72857318insC, NC_000005.10:g.72857317_72857318insG, NC_000005.9:g.72153144_72153145insC, NC_000005.9:g.72153144_72153145insG

Select item 14914530475.

rs1491453047 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 5:72863026 (GRCh38)
5:72158853 (GRCh37)
Canonical SPDI:: NC_000005.10:72863025:GG:
Gene:: TNPO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000015/2 (GnomAD)
HGVS:: NC_000005.10:g.72863026_72863027del, NC_000005.9:g.72158853_72158854del

Select item 14914249156.

rs1491424915 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:72822908 (GRCh38)
5:72118735 (GRCh37)
Canonical SPDI:: NC_000005.10:72822907:CT:
Gene:: TNPO1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00005/5 (GnomAD)
HGVS:: NC_000005.10:g.72822908_72822909del, NC_000005.9:g.72118735_72118736del

Select item 14914103527.

rs1491410352 has merged into rs5868650 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:72857324 (GRCh38)
5:72153151 (GRCh37)
Canonical SPDI:: NC_000005.10:72857316:AAAAAAAAAAAAA:AAAAAAA,NC_000005.10:72857316:AAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:72857316:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:72857316:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:72857316:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:72857316:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:72857316:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:72857316:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:72857316:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: TNPO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.20088/1006 (1000Genomes)
A=0.20312/117 (NorthernSweden)
A=0.2349/871 (TWINSUK)
A=0.25/10 (GENOME_DK)
A=0.26648/1027 (ALSPAC)
HGVS:: NC_000005.10:g.72857324_72857329del, NC_000005.10:g.72857326_72857329del, NC_000005.10:g.72857327_72857329del, NC_000005.10:g.72857328_72857329del, NC_000005.10:g.72857329del, NC_000005.10:g.72857329dup, NC_000005.10:g.72857328_72857329dup, NC_000005.10:g.72857326_72857329dup, NC_000005.10:g.72857323_72857329dup, NC_000005.9:g.72153151_72153156del, NC_000005.9:g.72153153_72153156del, NC_000005.9:g.72153154_72153156del, NC_000005.9:g.72153155_72153156del, NC_000005.9:g.72153156del, NC_000005.9:g.72153156dup, NC_000005.9:g.72153155_72153156dup, NC_000005.9:g.72153153_72153156dup, NC_000005.9:g.72153150_72153156dup

Select item 14913654368.

rs1491365436 has merged into rs5868651 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:72886899 (GRCh38)
5:72182726 (GRCh37)
Canonical SPDI:: NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72886888:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TNPO1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.371/1858 (1000Genomes)
HGVS:: NC_000005.10:g.72886899_72886911del, NC_000005.10:g.72886900_72886911del, NC_000005.10:g.72886903_72886911del, NC_000005.10:g.72886904_72886911del, NC_000005.10:g.72886905_72886911del, NC_000005.10:g.72886906_72886911del, NC_000005.10:g.72886907_72886911del, NC_000005.10:g.72886908_72886911del, NC_000005.10:g.72886909_72886911del, NC_000005.10:g.72886910_72886911del, NC_000005.10:g.72886911del, NC_000005.10:g.72886911dup, NC_000005.10:g.72886910_72886911dup, NC_000005.10:g.72886909_72886911dup, NC_000005.10:g.72886908_72886911dup, NC_000005.10:g.72886907_72886911dup, NC_000005.10:g.72886906_72886911dup, NC_000005.10:g.72886904_72886911dup, NC_000005.10:g.72886902_72886911dup, NC_000005.10:g.72886895_72886911dup, NC_000005.10:g.72886893_72886911dup, NC_000005.10:g.72886889_72886911dup, NC_000005.10:g.72886911_72886912insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.72886911_72886912insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.72886911_72886912insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.72886911_72886912insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.72182726_72182738del, NC_000005.9:g.72182727_72182738del, NC_000005.9:g.72182730_72182738del, NC_000005.9:g.72182731_72182738del, NC_000005.9:g.72182732_72182738del, NC_000005.9:g.72182733_72182738del, NC_000005.9:g.72182734_72182738del, NC_000005.9:g.72182735_72182738del, NC_000005.9:g.72182736_72182738del, NC_000005.9:g.72182737_72182738del, NC_000005.9:g.72182738del, NC_000005.9:g.72182738dup, NC_000005.9:g.72182737_72182738dup, NC_000005.9:g.72182736_72182738dup, NC_000005.9:g.72182735_72182738dup, NC_000005.9:g.72182734_72182738dup, NC_000005.9:g.72182733_72182738dup, NC_000005.9:g.72182731_72182738dup, NC_000005.9:g.72182729_72182738dup, NC_000005.9:g.72182722_72182738dup, NC_000005.9:g.72182720_72182738dup, NC_000005.9:g.72182716_72182738dup, NC_000005.9:g.72182738_72182739insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.72182738_72182739insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.72182738_72182739insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.72182738_72182739insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913494939.

rs1491349493 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:72889779 (GRCh38)
5:72185606 (GRCh37)
Canonical SPDI:: NC_000005.10:72889778:TA:
Gene:: TNPO1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000005.10:g.72889779_72889780del, NC_000005.9:g.72185606_72185607del

Select item 149128059910.

rs1491280599 has merged into rs11356390 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:72906273 (GRCh38)
5:72202100 (GRCh37)
Canonical SPDI:: NC_000005.10:72906264:TTTTTTTTTT:TTTTTTTT,NC_000005.10:72906264:TTTTTTTTTT:TTTTTTTTT,NC_000005.10:72906264:TTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:72906264:TTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:72906264:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:72906264:TTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:72906264:TTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:72906264:TTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:72906264:TTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:72906264:TTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:72906264:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: TNPO1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.15/6 (GENOME_DK)
T=0.2258/360 (Korea1K)
T=0.3497/207 (NorthernSweden)
HGVS:: NC_000005.10:g.72906273_72906274del, NC_000005.10:g.72906274del, NC_000005.10:g.72906274dup, NC_000005.10:g.72906273_72906274dup, NC_000005.10:g.72906272_72906274dup, NC_000005.10:g.72906271_72906274dup, NC_000005.10:g.72906270_72906274dup, NC_000005.10:g.72906269_72906274dup, NC_000005.10:g.72906268_72906274dup, NC_000005.10:g.72906267_72906274dup, NC_000005.10:g.72906265_72906274dup, NC_000005.9:g.72202100_72202101del, NC_000005.9:g.72202101del, NC_000005.9:g.72202101dup, NC_000005.9:g.72202100_72202101dup, NC_000005.9:g.72202099_72202101dup, NC_000005.9:g.72202098_72202101dup, NC_000005.9:g.72202097_72202101dup, NC_000005.9:g.72202096_72202101dup, NC_000005.9:g.72202095_72202101dup, NC_000005.9:g.72202094_72202101dup, NC_000005.9:g.72202092_72202101dup

Select item 149127250611.

rs1491272506 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:72886888 (GRCh38)
5:72182715 (GRCh37)
Canonical SPDI:: NC_000005.10:72886887:CA:
Gene:: TNPO1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000005.10:g.72886888_72886889del, NC_000005.9:g.72182715_72182716del

Select item 149125595812.

rs1491255958 has merged into rs56331096 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:72822918 (GRCh38)
5:72118745 (GRCh37)
Canonical SPDI:: NC_000005.10:72822908:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:72822908:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:72822908:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:72822908:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:72822908:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:72822908:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:72822908:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:72822908:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:72822908:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:72822908:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:72822908:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:72822908:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:72822908:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72822908:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72822908:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72822908:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72822908:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72822908:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72822908:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72822908:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72822908:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TNPO1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.72822918_72822932del, NC_000005.10:g.72822919_72822932del, NC_000005.10:g.72822920_72822932del, NC_000005.10:g.72822921_72822932del, NC_000005.10:g.72822922_72822932del, NC_000005.10:g.72822923_72822932del, NC_000005.10:g.72822924_72822932del, NC_000005.10:g.72822925_72822932del, NC_000005.10:g.72822926_72822932del, NC_000005.10:g.72822927_72822932del, NC_000005.10:g.72822928_72822932del, NC_000005.10:g.72822929_72822932del, NC_000005.10:g.72822930_72822932del, NC_000005.10:g.72822931_72822932del, NC_000005.10:g.72822932del, NC_000005.10:g.72822932dup, NC_000005.10:g.72822931_72822932dup, NC_000005.10:g.72822930_72822932dup, NC_000005.10:g.72822929_72822932dup, NC_000005.10:g.72822927_72822932dup, NC_000005.10:g.72822932_72822933insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.72118745_72118759del, NC_000005.9:g.72118746_72118759del, NC_000005.9:g.72118747_72118759del, NC_000005.9:g.72118748_72118759del, NC_000005.9:g.72118749_72118759del, NC_000005.9:g.72118750_72118759del, NC_000005.9:g.72118751_72118759del, NC_000005.9:g.72118752_72118759del, NC_000005.9:g.72118753_72118759del, NC_000005.9:g.72118754_72118759del, NC_000005.9:g.72118755_72118759del, NC_000005.9:g.72118756_72118759del, NC_000005.9:g.72118757_72118759del, NC_000005.9:g.72118758_72118759del, NC_000005.9:g.72118759del, NC_000005.9:g.72118759dup, NC_000005.9:g.72118758_72118759dup, NC_000005.9:g.72118757_72118759dup, NC_000005.9:g.72118756_72118759dup, NC_000005.9:g.72118754_72118759dup, NC_000005.9:g.72118759_72118760insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149121536013.

rs1491215360 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 5:72885743 (GRCh38)
5:72181570 (GRCh37)
Canonical SPDI:: NC_000005.10:72885742:GT:
Gene:: TNPO1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00008/7 (GnomAD)
HGVS:: NC_000005.10:g.72885743_72885744del, NC_000005.9:g.72181570_72181571del

Select item 149121177914.

rs1491211779 has merged into rs34593186 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 5:72885757 (GRCh38)
5:72181584 (GRCh37)
Canonical SPDI:: NC_000005.10:72885743:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:72885743:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:72885743:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:72885743:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:72885743:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:72885743:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:72885743:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72885743:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: TNPO1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.3836/1921 (1000Genomes)
HGVS:: NC_000005.10:g.72885757_72885760del, NC_000005.10:g.72885758_72885760del, NC_000005.10:g.72885759_72885760del, NC_000005.10:g.72885760del, NC_000005.10:g.72885760dup, NC_000005.10:g.72885759_72885760dup, NC_000005.10:g.72885744_72885760T[19]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.72885758_72885760dup, NC_000005.9:g.72181584_72181587del, NC_000005.9:g.72181585_72181587del, NC_000005.9:g.72181586_72181587del, NC_000005.9:g.72181587del, NC_000005.9:g.72181587dup, NC_000005.9:g.72181586_72181587dup, NC_000005.9:g.72181571_72181587T[19]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.72181585_72181587dup

Select item 149100229515.

rs1491002295 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:72848632 (GRCh38)
5:72144459 (GRCh37)
Canonical SPDI:: NC_000005.10:72848631:T:G
Gene:: TNPO1 (Varview)
Functional Consequence:: intron_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_000005.10:g.72848632T>G, NC_000005.9:g.72144459T>G

Select item 149097880316.

rs1490978803 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:72906504 (GRCh38)
5:72202331 (GRCh37)
Canonical SPDI:: NC_000005.10:72906503:C:T
Gene:: TNPO1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.72906504C>T, NC_000005.9:g.72202331C>T

Select item 149092979817.

rs1490929798 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATT>- [Show Flanks]
Chromosome:: 5:72872551 (GRCh38)
5:72168378 (GRCh37)
Canonical SPDI:: NC_000005.10:72872549:TATT:T
Gene:: TNPO1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000049/13 (TOPMED)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000005.10:g.72872551_72872553del, NC_000005.9:g.72168378_72168380del

Select item 149091899918.

rs1490918999 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:72830850 (GRCh38)
5:72126677 (GRCh37)
Canonical SPDI:: NC_000005.10:72830849:T:A
Gene:: TNPO1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.72830850T>A, NC_000005.9:g.72126677T>A

Select item 149089731119.

rs1490897311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:72895285 (GRCh38)
5:72191112 (GRCh37)
Canonical SPDI:: NC_000005.10:72895284:G:A
Gene:: TNPO1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.72895285G>A, NC_000005.9:g.72191112G>A

Select item 149087441420.

rs1490874414 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:72910091 (GRCh38)
5:72205918 (GRCh37)
Canonical SPDI:: NC_000005.10:72910090:T:A,NC_000005.10:72910090:T:C
Gene:: TNPO1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.72910091T>A, NC_000005.10:g.72910091T>C, NC_000005.9:g.72205918T>A, NC_000005.9:g.72205918T>C, NM_153188.4:c.*1418T>A, NM_153188.4:c.*1418T>C, NM_153188.3:c.*1418T>A, NM_153188.3:c.*1418T>C, NM_153188.2:c.*1418T>A, NM_153188.2:c.*1418T>C, NM_002270.4:c.*1418T>A, NM_002270.4:c.*1418T>C, NM_002270.3:c.*1418T>A, NM_002270.3:c.*1418T>C, NM_001364292.3:c.*1418T>A, NM_001364292.3:c.*1418T>C, NM_001364292.2:c.*1418T>A, NM_001364292.2:c.*1418T>C, NM_001364292.1:c.*1418T>A, NM_001364292.1:c.*1418T>C, NM_001364293.3:c.*1418T>A, NM_001364293.3:c.*1418T>C, NM_001364293.2:c.*1418T>A, NM_001364293.2:c.*1418T>C, NM_001364293.1:c.*1418T>A, NM_001364293.1:c.*1418T>C, NM_001364294.3:c.*1418T>A, NM_001364294.3:c.*1418T>C, NM_001364294.2:c.*1418T>A, NM_001364294.2:c.*1418T>C, NM_001364294.1:c.*1418T>A, NM_001364294.1:c.*1418T>C, XM_005248501.3:c.*1418T>A, XM_005248501.3:c.*1418T>C, XM_005248501.2:c.*1418T>A, XM_005248501.2:c.*1418T>C, XM_005248501.1:c.*1418T>A, XM_005248501.1:c.*1418T>C, NM_001364295.3:c.*1418T>A, NM_001364295.3:c.*1418T>C, NM_001364295.2:c.*1418T>A, NM_001364295.2:c.*1418T>C, NM_001364295.1:c.*1418T>A, NM_001364295.1:c.*1418T>C, XM_047417168.1:c.*1418T>A, XM_047417168.1:c.*1418T>C

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