SNP Links for Gene (Select 101929523) - SNP

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Select item 14915700781.

rs1491570078 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 6:169235943 (GRCh38)
6:169636038 (GRCh37)
Canonical SPDI:: NC_000006.12:169235941:CTC:C
Gene:: THBS2 (Varview), THBS2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000006.12:g.169235943_169235944del, NC_000006.11:g.169636038_169636039del, NG_022911.1:g.23100_23101del

Select item 14915317332.

rs1491531733 has merged into rs58423957 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AAA,AAAA,AAAAAA [Show Flanks]
Chromosome:: 6:169217845 (GRCh38)
6:169617940 (GRCh37)
Canonical SPDI:: NC_000006.12:169217839:AAAAAAAAAA:AAAAA,NC_000006.12:169217839:AAAAAAAAAA:AAAAAAAA,NC_000006.12:169217839:AAAAAAAAAA:AAAAAAAAA,NC_000006.12:169217839:AAAAAAAAAA:AAAAAAAAAAA
Gene:: THBS2 (Varview), THBS2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.300756/79607 (TOPMED)
A=0.326155/1257 (ALSPAC)
A=0.328209/1217 (TWINSUK)
A=0.339475/1695 (1000Genomes)
A=0.4/16 (GENOME_DK)
A=0.49345/904 (Korea1K)
HGVS:: NC_000006.12:g.169217845_169217849del, NC_000006.12:g.169217848_169217849del, NC_000006.12:g.169217849del, NC_000006.12:g.169217849dup, NC_000006.11:g.169617940_169617944del, NC_000006.11:g.169617943_169617944del, NC_000006.11:g.169617944del, NC_000006.11:g.169617944dup, NG_022911.1:g.41199_41203del, NG_022911.1:g.41202_41203del, NG_022911.1:g.41203del, NG_022911.1:g.41203dup

Select item 14913455603.

rs1491345560 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:169228074 (GRCh38)
6:169628169 (GRCh37)
Canonical SPDI:: NC_000006.12:169228073:CA:
Gene:: THBS2 (Varview), THBS2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.169228074_169228075del, NC_000006.11:g.169628169_169628170del, NG_022911.1:g.30968_30969del

Select item 14913363894.

rs1491336389 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:169222794 (GRCh38)
6:169622889 (GRCh37)
Canonical SPDI:: NC_000006.12:169222793:CA:
Gene:: THBS2 (Varview), THBS2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.169222794_169222795del, NC_000006.11:g.169622889_169622890del, NG_022911.1:g.36248_36249del

Select item 14913196865.

rs1491319686 has merged into rs67630546 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:169222796 (GRCh38)
6:169622891 (GRCh37)
Canonical SPDI:: NC_000006.12:169222794:AAAAAAAAAAAAA:A,NC_000006.12:169222794:AAAAAAAAAAAAA:AA,NC_000006.12:169222794:AAAAAAAAAAAAA:AAAAAAAA,NC_000006.12:169222794:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:169222794:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:169222794:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:169222794:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:169222794:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:169222794:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: THBS2 (Varview), THBS2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.0799/308 (ALSPAC)
HGVS:: NC_000006.12:g.169222796_169222807del, NC_000006.12:g.169222797_169222807del, NC_000006.12:g.169222803_169222807del, NC_000006.12:g.169222805_169222807del, NC_000006.12:g.169222806_169222807del, NC_000006.12:g.169222807del, NC_000006.12:g.169222807dup, NC_000006.12:g.169222806_169222807dup, NC_000006.12:g.169222802_169222807dup, NC_000006.11:g.169622891_169622902del, NC_000006.11:g.169622892_169622902del, NC_000006.11:g.169622898_169622902del, NC_000006.11:g.169622900_169622902del, NC_000006.11:g.169622901_169622902del, NC_000006.11:g.169622902del, NC_000006.11:g.169622902dup, NC_000006.11:g.169622901_169622902dup, NC_000006.11:g.169622897_169622902dup, NG_022911.1:g.36237_36248del, NG_022911.1:g.36238_36248del, NG_022911.1:g.36244_36248del, NG_022911.1:g.36246_36248del, NG_022911.1:g.36247_36248del, NG_022911.1:g.36248del, NG_022911.1:g.36248dup, NG_022911.1:g.36247_36248dup, NG_022911.1:g.36243_36248dup

Select item 14913091776.

rs1491309177 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:169213337 (GRCh38)
6:169613432 (GRCh37)
Canonical SPDI:: NC_000006.12:169213336:TA:
Gene:: THBS2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000006.12:g.169213337_169213338del, NC_000006.11:g.169613432_169613433del, NR_134621.1:n.126_127del

Select item 14912764067.

rs1491276406 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:169217839 (GRCh38)
6:169617934 (GRCh37)
Canonical SPDI:: NC_000006.12:169217837:AGA:A
Gene:: THBS2 (Varview), THBS2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000006.12:g.169217839_169217840del, NC_000006.11:g.169617934_169617935del, NG_022911.1:g.41204_41205del

Select item 14912165138.

rs1491216513 has merged into rs915363941 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,CCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC [Show Flanks]
Chromosome:: 6:169215730 (GRCh38)
6:169615825 (GRCh37)
Canonical SPDI:: NC_000006.12:169215728:CCCCC:C,NC_000006.12:169215728:CCCCC:CCCC,NC_000006.12:169215728:CCCCC:CCCCCC,NC_000006.12:169215728:CCCCC:CCCCCCC,NC_000006.12:169215728:CCCCC:CCCCCCCC,NC_000006.12:169215728:CCCCC:CCCCCCCCC
Gene:: THBS2 (Varview), THBS2-AS1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.00124/18 (TOMMO)
HGVS:: NC_000006.12:g.169215730_169215733del, NC_000006.12:g.169215733del, NC_000006.12:g.169215733dup, NC_000006.12:g.169215732_169215733dup, NC_000006.12:g.169215731_169215733dup, NC_000006.12:g.169215730_169215733dup, NC_000006.11:g.169615825_169615828del, NC_000006.11:g.169615828del, NC_000006.11:g.169615828dup, NC_000006.11:g.169615827_169615828dup, NC_000006.11:g.169615826_169615828dup, NC_000006.11:g.169615825_169615828dup, NG_022911.1:g.43311_43314del, NG_022911.1:g.43314del, NG_022911.1:g.43314dup, NG_022911.1:g.43313_43314dup, NG_022911.1:g.43312_43314dup, NG_022911.1:g.43311_43314dup

Select item 14911669009.

rs1491166900 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:169217838 (GRCh38)
6:169617934 (GRCh37)
Canonical SPDI:: NC_000006.12:169217838:G:GG
Gene:: THBS2 (Varview), THBS2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000006.12:g.169217839dup, NC_000006.11:g.169617934dup, NG_022911.1:g.41204dup

Select item 149112149610.

rs1491121496 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 6:169215728 (GRCh38)
6:169615823 (GRCh37)
Canonical SPDI:: NC_000006.12:169215727:TC:
Gene:: THBS2 (Varview), THBS2-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.169215728_169215729del, NC_000006.11:g.169615823_169615824del, NG_022911.1:g.43314_43315del

Select item 149111393311.

rs1491113933 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTCCCATCCACAGTCACTCCCCATCCACACTCA [Show Flanks]
Chromosome:: 6:169235942 (GRCh38)
6:169636038 (GRCh37)
Canonical SPDI:: NC_000006.12:169235942:TCACTCCCCATCCACACTCA:TCACTCCCCATCCACACTCATTCCCATCCACAGTCACTCCCCATCCACACTCA
Gene:: THBS2 (Varview), THBS2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: TCACTCCCCATCCACACTCATTCCCATCCACAG=0.0001/2 (TOMMO)
HGVS:: NC_000006.12:g.169235962_169235963insTTCCCATCCACAGTCACTCCCCATCCACACTCA, NC_000006.11:g.169636057_169636058insTTCCCATCCACAGTCACTCCCCATCCACACTCA, NG_022911.1:g.23100_23101insCTGTGGATGGGAATGAGTGTGGATGGGGAGTGA

Select item 149105643412.

rs1491056434 [Homo sapiens]

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

Select item 149104862313.

rs1491048623 has merged into rs1554243258 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>-,ACAC [Show Flanks]
Chromosome:: 6:169215734 (GRCh38)
6:169615829 (GRCh37)
Canonical SPDI:: NC_000006.12:169215732:CAC:C,NC_000006.12:169215732:CAC:CACAC
Gene:: THBS2 (Varview), THBS2-AS1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000019/1 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.169215734_169215735del, NC_000006.12:g.169215734_169215735dup, NC_000006.11:g.169615829_169615830del, NC_000006.11:g.169615829_169615830dup, NG_022911.1:g.43309_43310del, NG_022911.1:g.43309_43310dup

Select item 149104121214.

rs1491041212 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:169228925 (GRCh38)
6:169629020 (GRCh37)
Canonical SPDI:: NC_000006.12:169228922:AGAG:AG
Gene:: THBS2 (Varview), THBS2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.00011/15 (GnomAD)
HGVS:: NC_000006.12:g.169228923AG[1], NC_000006.11:g.169629018AG[1], NG_022911.1:g.30117CT[1]

Select item 149096542915.

rs1490965429 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:169236340 (GRCh38)
6:169636435 (GRCh37)
Canonical SPDI:: NC_000006.12:169236339:C:T
Gene:: THBS2 (Varview), THBS2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000009/1 (GnomAD)
T=0.000317/6 (TOMMO)
HGVS:: NC_000006.12:g.169236340C>T, NC_000006.11:g.169636435C>T, NG_022911.1:g.22703G>A

Select item 149084666416.

rs1490846664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:169218638 (GRCh38)
6:169618733 (GRCh37)
Canonical SPDI:: NC_000006.12:169218637:G:A
Gene:: THBS2 (Varview), THBS2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00005/4 (GnomAD)
A=0.00045/7 (TOMMO)
A=0.00055/1 (Korea1K)
A=0.00137/4 (KOREAN)
HGVS:: NC_000006.12:g.169218638G>A, NC_000006.11:g.169618733G>A, NG_022911.1:g.40405C>T

Select item 149072613517.

rs1490726135 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:169239350 (GRCh38)
6:169639445 (GRCh37)
Canonical SPDI:: NC_000006.12:169239349:T:C
Gene:: THBS2 (Varview), THBS2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.169239350T>C, NC_000006.11:g.169639445T>C, NG_022911.1:g.19693A>G, NR_134621.1:n.807T>C

Select item 149066205018.

rs1490662050 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:169225852 (GRCh38)
6:169625947 (GRCh37)
Canonical SPDI:: NC_000006.12:169225851:C:T
Gene:: THBS2 (Varview), THBS2-AS1 (Varview), LOC124901470 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000006.12:g.169225852C>T, NC_000006.11:g.169625947C>T, NG_022911.1:g.33191G>A, XR_007059889.1:n.372C>T

Select item 149042757719.

rs1490427577 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:169231778 (GRCh38)
6:169631873 (GRCh37)
Canonical SPDI:: NC_000006.12:169231777:C:T
Gene:: THBS2 (Varview), THBS2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.169231778C>T, NC_000006.11:g.169631873C>T, NG_022911.1:g.27265G>A

Select item 149040408320.

rs1490404083 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:169239632 (GRCh38)
6:169639727 (GRCh37)
Canonical SPDI:: NC_000006.12:169239631:C:G
Gene:: THBS2 (Varview), THBS2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000006.12:g.169239632C>G, NC_000006.11:g.169639727C>G, NG_022911.1:g.19411G>C, NM_003247.5:c.1096G>C, NM_003247.4:c.1096G>C, NM_003247.3:c.1096G>C, NM_003247.2:c.1096G>C, NM_001381942.1:c.865G>C, NR_167745.1:n.1241G>C, NR_167744.1:n.1241G>C, NM_001381939.1:c.1096G>C, NM_001381940.1:c.1096G>C, NP_003238.2:p.Val366Leu, NP_001368871.1:p.Val289Leu, NP_001368868.1:p.Val366Leu, NP_001368869.1:p.Val366Leu

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