SNP Links for Gene (Select 7064) - SNP

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Select item 14914623401.

rs1491462340 has merged into rs397859303 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:2784769 (GRCh38)
19:2784767 (GRCh37)
Canonical SPDI:: NC_000019.10:2784758:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:2784758:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:2784758:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:2784758:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:2784758:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:2784758:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:2784758:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:2784758:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:2784758:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:2784758:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:2784758:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:2784758:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:2784758:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:2784758:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:2784758:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:2784758:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:2784758:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:2784758:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:2784758:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SGTA (Varview), THOP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.4209/2108 (1000Genomes)
HGVS:: NC_000019.10:g.2784769_2784781del, NC_000019.10:g.2784770_2784781del, NC_000019.10:g.2784771_2784781del, NC_000019.10:g.2784772_2784781del, NC_000019.10:g.2784773_2784781del, NC_000019.10:g.2784774_2784781del, NC_000019.10:g.2784775_2784781del, NC_000019.10:g.2784776_2784781del, NC_000019.10:g.2784777_2784781del, NC_000019.10:g.2784778_2784781del, NC_000019.10:g.2784779_2784781del, NC_000019.10:g.2784780_2784781del, NC_000019.10:g.2784781del, NC_000019.10:g.2784781dup, NC_000019.10:g.2784780_2784781dup, NC_000019.10:g.2784779_2784781dup, NC_000019.10:g.2784778_2784781dup, NC_000019.10:g.2784777_2784781dup, NC_000019.10:g.2784774_2784781dup, NC_000019.9:g.2784767_2784779del, NC_000019.9:g.2784768_2784779del, NC_000019.9:g.2784769_2784779del, NC_000019.9:g.2784770_2784779del, NC_000019.9:g.2784771_2784779del, NC_000019.9:g.2784772_2784779del, NC_000019.9:g.2784773_2784779del, NC_000019.9:g.2784774_2784779del, NC_000019.9:g.2784775_2784779del, NC_000019.9:g.2784776_2784779del, NC_000019.9:g.2784777_2784779del, NC_000019.9:g.2784778_2784779del, NC_000019.9:g.2784779del, NC_000019.9:g.2784779dup, NC_000019.9:g.2784778_2784779dup, NC_000019.9:g.2784777_2784779dup, NC_000019.9:g.2784776_2784779dup, NC_000019.9:g.2784775_2784779dup, NC_000019.9:g.2784772_2784779dup

Select item 14908520172.

rs1490852017 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTC>- [Show Flanks]
Chromosome:: 19:2785875 (GRCh38)
19:2785873 (GRCh37)
Canonical SPDI:: NC_000019.10:2785867:TTCATTCATTC:TTCATTC
Gene:: THOP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTCATTC=0./0 (ALFA)
HGVS:: NC_000019.10:g.2785871ATTC[1], NC_000019.9:g.2785869ATTC[1]

Select item 14905725333.

rs1490572533 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:2792470 (GRCh38)
19:2792468 (GRCh37)
Canonical SPDI:: NC_000019.10:2792469:C:A,NC_000019.10:2792469:C:G
Gene:: THOP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.00016/1 (1000Genomes)
HGVS:: NC_000019.10:g.2792470C>A, NC_000019.10:g.2792470C>G, NC_000019.9:g.2792468C>A, NC_000019.9:g.2792468C>G

Select item 14905194464.

rs1490519446 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:2804263 (GRCh38)
19:2804261 (GRCh37)
Canonical SPDI:: NC_000019.10:2804262:G:T
Gene:: THOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.2804263G>T, NC_000019.9:g.2804261G>T

Select item 14905057865.

rs1490505786 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:2798865 (GRCh38)
19:2798863 (GRCh37)
Canonical SPDI:: NC_000019.10:2798864:A:G
Gene:: THOP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.2798865A>G, NC_000019.9:g.2798863A>G

Select item 14905054186.

rs1490505418 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2784662 (GRCh38)
19:2784660 (GRCh37)
Canonical SPDI:: NC_000019.10:2784661:G:A
Gene:: SGTA (Varview), THOP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.2784662G>A, NC_000019.9:g.2784660G>A

Select item 14904760537.

rs1490476053 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:2812295 (GRCh38)
19:2812293 (GRCh37)
Canonical SPDI:: NC_000019.10:2812294:A:G
Gene:: THOP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.2812295A>G, NC_000019.9:g.2812293A>G

Select item 14903849638.

rs1490384963 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:2811263 (GRCh38)
19:2811261 (GRCh37)
Canonical SPDI:: NC_000019.10:2811262:T:C
Gene:: THOP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.2811263T>C, NC_000019.9:g.2811261T>C

Select item 14903780339.

rs1490378033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2797971 (GRCh38)
19:2797969 (GRCh37)
Canonical SPDI:: NC_000019.10:2797970:G:A
Gene:: THOP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.2797971G>A, NC_000019.9:g.2797969G>A

Select item 149005210810.

rs1490052108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:2797213 (GRCh38)
19:2797211 (GRCh37)
Canonical SPDI:: NC_000019.10:2797212:G:A,NC_000019.10:2797212:G:T
Gene:: THOP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.2797213G>A, NC_000019.10:g.2797213G>T, NC_000019.9:g.2797211G>A, NC_000019.9:g.2797211G>T

Select item 149003353311.

rs1490033533 has merged into rs1197469541 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGCGGCGGT>-,GGCGGCGGTGGCGGCGGT [Show Flanks]
Chromosome:: 19:2785563 (GRCh38)
19:2785561 (GRCh37)
Canonical SPDI:: NC_000019.10:2785551:GTGGCGGCGGTGGCGGCGGT:GTGGCGGCGGT,NC_000019.10:2785551:GTGGCGGCGGTGGCGGCGGT:GTGGCGGCGGTGGCGGCGGTGGCGGCGGT
Gene:: THOP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGGCGGCGGTGGCGGCGGTGGCGGCGGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
GTGGCGGCG=0.000043/6 (GnomAD)
HGVS:: NC_000019.10:g.2785554GGCGGCGGT[1], NC_000019.10:g.2785554GGCGGCGGT[3], NC_000019.9:g.2785552GGCGGCGGT[1], NC_000019.9:g.2785552GGCGGCGGT[3], NM_003249.5:c.-109GGCGGCGGT[1], NM_003249.5:c.-109GGCGGCGGT[3], NM_003249.4:c.-109GGCGGCGGT[1], NM_003249.4:c.-109GGCGGCGGT[3], NM_003249.3:c.-109GGCGGCGGT[1], NM_003249.3:c.-109GGCGGCGGT[3], XM_047439299.1:c.-109GGCGGCGGT[1], XM_047439299.1:c.-109GGCGGCGGT[3]

Select item 149001565912.

rs1490015659 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:2783638 (GRCh38)
19:2783636 (GRCh37)
Canonical SPDI:: NC_000019.10:2783637:G:A,NC_000019.10:2783637:G:C
Gene:: SGTA (Varview), THOP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.2783638G>A, NC_000019.10:g.2783638G>C, NC_000019.9:g.2783636G>A, NC_000019.9:g.2783636G>C

Select item 148990244213.

rs1489902442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:2809849 (GRCh38)
19:2809847 (GRCh37)
Canonical SPDI:: NC_000019.10:2809848:G:C
Gene:: THOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2809849G>C, NC_000019.9:g.2809847G>C

Select item 148959397214.

rs1489593972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:2805880 (GRCh38)
19:2805878 (GRCh37)
Canonical SPDI:: NC_000019.10:2805879:G:A,NC_000019.10:2805879:G:C
Gene:: THOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000016/2 (GnomAD)
HGVS:: NC_000019.10:g.2805880G>A, NC_000019.10:g.2805880G>C, NC_000019.9:g.2805878G>A, NC_000019.9:g.2805878G>C

Select item 148953585915.

rs1489535859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:2806135 (GRCh38)
19:2806133 (GRCh37)
Canonical SPDI:: NC_000019.10:2806134:C:G
Gene:: THOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.2806135C>G, NC_000019.9:g.2806133C>G

Select item 148936710616.

rs1489367106 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:2806902 (GRCh38)
19:2806900 (GRCh37)
Canonical SPDI:: NC_000019.10:2806901:T:C
Gene:: THOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.2806902T>C, NC_000019.9:g.2806900T>C

Select item 148935419417.

rs1489354194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:2793182 (GRCh38)
19:2793180 (GRCh37)
Canonical SPDI:: NC_000019.10:2793181:A:G
Gene:: THOP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2793182A>G, NC_000019.9:g.2793180A>G

Select item 148924952318.

rs1489249523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2787811 (GRCh38)
19:2787809 (GRCh37)
Canonical SPDI:: NC_000019.10:2787810:G:A
Gene:: THOP1 (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=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.2787811G>A, NC_000019.9:g.2787809G>A

Select item 148917151919.

rs1489171519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:2811698 (GRCh38)
19:2811696 (GRCh37)
Canonical SPDI:: NC_000019.10:2811697:C:T
Gene:: THOP1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2811698C>T, NC_000019.9:g.2811696C>T, NM_003249.5:c.1872C>T, NM_003249.4:c.1872C>T, NM_003249.3:c.1872C>T, XM_011528228.3:c.1245C>T, XM_011528228.2:c.1245C>T, XM_011528228.1:c.1245C>T

Select item 148915238120.

rs1489152381 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2800320 (GRCh38)
19:2800318 (GRCh37)
Canonical SPDI:: NC_000019.10:2800319:G:A
Gene:: THOP1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2800320G>A, NC_000019.9:g.2800318G>A

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