SNP Links for Gene (Select 400604) - SNP

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Select item 14914141241.

rs1491414124 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:50868145 (GRCh38)
17:48945506 (GRCh37)
Canonical SPDI:: NC_000017.11:50868144:AT:
Gene:: TOB1 (Varview), TOB1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.50868145_50868146del, NC_000017.10:g.48945506_48945507del, NR_038458.1:n.1189_1190del

Select item 14911475202.

rs1491147520 has merged into rs56406873 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 17:50868158 (GRCh38)
17:48945519 (GRCh37)
Canonical SPDI:: NC_000017.11:50868145:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:50868145:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:50868145:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:50868145:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:50868145:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:50868145:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: TOB1 (Varview), TOB1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.0298/115 (ALSPAC)
T=0.4189/2098 (1000Genomes)
HGVS:: NC_000017.11:g.50868158_50868160del, NC_000017.11:g.50868159_50868160del, NC_000017.11:g.50868160del, NC_000017.11:g.50868160dup, NC_000017.11:g.50868159_50868160dup, NC_000017.11:g.50868158_50868160dup, NC_000017.10:g.48945519_48945521del, NC_000017.10:g.48945520_48945521del, NC_000017.10:g.48945521del, NC_000017.10:g.48945521dup, NC_000017.10:g.48945520_48945521dup, NC_000017.10:g.48945519_48945521dup, NR_038458.1:n.1202_1204del, NR_038458.1:n.1203_1204del, NR_038458.1:n.1204del, NR_038458.1:n.1204dup, NR_038458.1:n.1203_1204dup, NR_038458.1:n.1202_1204dup

Select item 14901848973.

rs1490184897 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:50865537 (GRCh38)
17:48942898 (GRCh37)
Canonical SPDI:: NC_000017.11:50865536:A:C
Gene:: TOB1 (Varview), TOB1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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_000017.11:g.50865537A>C, NC_000017.10:g.48942898A>C

Select item 14884942094.

rs1488494209 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:50864938 (GRCh38)
17:48942299 (GRCh37)
Canonical SPDI:: NC_000017.11:50864937:C:G,NC_000017.11:50864937:C:T
Gene:: TOB1 (Varview), TOB1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.50864938C>G, NC_000017.11:g.50864938C>T, NC_000017.10:g.48942299C>G, NC_000017.10:g.48942299C>T

Select item 14878805485.

rs1487880548 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:50867384 (GRCh38)
17:48944745 (GRCh37)
Canonical SPDI:: NC_000017.11:50867383:T:C
Gene:: TOB1 (Varview), TOB1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.50867384T>C, NC_000017.10:g.48944745T>C

Select item 14878471716.

rs1487847171 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50868423 (GRCh38)
17:48945784 (GRCh37)
Canonical SPDI:: NC_000017.11:50868422:C:T
Gene:: TOB1 (Varview), TOB1-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_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_000017.11:g.50868423C>T, NC_000017.10:g.48945784C>T

Select item 14877965317.

rs1487796531 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50867439 (GRCh38)
17:48944800 (GRCh37)
Canonical SPDI:: NC_000017.11:50867438:G:A
Gene:: TOB1 (Varview), TOB1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.50867439G>A, NC_000017.10:g.48944800G>A

Select item 14874711818.

rs1487471181 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50867825 (GRCh38)
17:48945186 (GRCh37)
Canonical SPDI:: NC_000017.11:50867824:G:A
Gene:: TOB1 (Varview), TOB1-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.50867825G>A, NC_000017.10:g.48945186G>A, NM_001243877.2:c.-276C>T, NM_001243877.1:c.-276C>T, NR_038458.1:n.869G>A

Select item 14867153959.

rs1486715395 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:50866345 (GRCh38)
17:48943706 (GRCh37)
Canonical SPDI:: NC_000017.11:50866344:C:A,NC_000017.11:50866344:C:T
Gene:: TOB1 (Varview), TOB1-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.50866345C>A, NC_000017.11:g.50866345C>T, NC_000017.10:g.48943706C>A, NC_000017.10:g.48943706C>T, NM_005749.4:c.-434G>T, NM_005749.4:c.-434G>A, NM_005749.3:c.-434G>T, NM_005749.3:c.-434G>A, NM_001243885.2:c.-648G>T, NM_001243885.2:c.-648G>A, NM_001243885.1:c.-648G>T, NM_001243885.1:c.-648G>A

Select item 148596332010.

rs1485963320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50867597 (GRCh38)
17:48944958 (GRCh37)
Canonical SPDI:: NC_000017.11:50867596:G:A
Gene:: TOB1 (Varview), TOB1-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.50867597G>A, NC_000017.10:g.48944958G>A, NM_001243877.2:c.-250C>T, NM_001243877.1:c.-250C>T, NR_038458.1:n.641G>A

Select item 148592564511.

rs1485925645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50867386 (GRCh38)
17:48944747 (GRCh37)
Canonical SPDI:: NC_000017.11:50867385:G:A
Gene:: TOB1 (Varview), TOB1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.50867386G>A, NC_000017.10:g.48944747G>A

Select item 148383413912.

rs1483834139 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCCCGAG>- [Show Flanks]
Chromosome:: 17:50865953 (GRCh38)
17:48943314 (GRCh37)
Canonical SPDI:: NC_000017.11:50865946:CCCGAGCTCCCGAG:CCCGAG
Gene:: TOB1 (Varview), TOB1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CCCGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.50865953_50865960del, NC_000017.10:g.48943314_48943321del

Select item 148303811013.

rs1483038110 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:50868162 (GRCh38)
17:48945523 (GRCh37)
Canonical SPDI:: NC_000017.11:50868161:A:G,NC_000017.11:50868161:A:T
Gene:: TOB1 (Varview), TOB1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00025/3 (ALFA)
G=0.00028/8 (TOMMO)
G=0.00164/3 (Korea1K)
T=0.00206/6 (KOREAN)
HGVS:: NC_000017.11:g.50868162A>G, NC_000017.11:g.50868162A>T, NC_000017.10:g.48945523A>G, NC_000017.10:g.48945523A>T, NR_038458.1:n.1206A>G, NR_038458.1:n.1206A>T

Select item 148253802414.

rs1482538024 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:50867828 (GRCh38)
17:48945189 (GRCh37)
Canonical SPDI:: NC_000017.11:50867827:C:A
Gene:: TOB1 (Varview), TOB1-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000094/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.50867828C>A, NC_000017.10:g.48945189C>A, NM_001243877.2:c.-279G>T, NM_001243877.1:c.-279G>T, NR_038458.1:n.872C>A

Select item 148205382815.

rs1482053828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:50867147 (GRCh38)
17:48944508 (GRCh37)
Canonical SPDI:: NC_000017.11:50867146:C:A
Gene:: TOB1 (Varview), TOB1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.50867147C>A, NC_000017.10:g.48944508C>A, NR_038458.1:n.469C>A

Select item 148150964816.

rs1481509648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:50866660 (GRCh38)
17:48944021 (GRCh37)
Canonical SPDI:: NC_000017.11:50866659:G:T
Gene:: TOB1 (Varview), TOB1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.50866660G>T, NC_000017.10:g.48944021G>T

Select item 148147793517.

rs1481477935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:50867609 (GRCh38)
17:48944970 (GRCh37)
Canonical SPDI:: NC_000017.11:50867608:G:A,NC_000017.11:50867608:G:C
Gene:: TOB1 (Varview), TOB1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.50867609G>A, NC_000017.11:g.50867609G>C, NC_000017.10:g.48944970G>A, NC_000017.10:g.48944970G>C, NR_038458.1:n.653G>A, NR_038458.1:n.653G>C

Select item 148086416318.

rs1480864163 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>T
Chromosome:: no mapping
Canonical SPDI:

Select item 148081269819.

rs1480812698 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAGAGG>-,ACAGAGGACAGAGG [Show Flanks]
Chromosome:: 17:50866195 (GRCh38)
17:48943556 (GRCh37)
Canonical SPDI:: NC_000017.11:50866183:GAGGACAGAGGACAGAGG:GAGGACAGAGG,NC_000017.11:50866183:GAGGACAGAGGACAGAGG:GAGGACAGAGGACAGAGGACAGAGG
Gene:: TOB1 (Varview), TOB1-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGACAGAGG=0.000071/1 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.50866188ACAGAGG[1], NC_000017.11:g.50866188ACAGAGG[3], NC_000017.10:g.48943549ACAGAGG[1], NC_000017.10:g.48943549ACAGAGG[3], NM_005749.4:c.-286TGTCCTC[1], NM_005749.4:c.-286TGTCCTC[3], NM_005749.3:c.-286TGTCCTC[1], NM_005749.3:c.-286TGTCCTC[3], NM_001243885.2:c.-500TGTCCTC[1], NM_001243885.2:c.-500TGTCCTC[3], NM_001243885.1:c.-500TGTCCTC[1], NM_001243885.1:c.-500TGTCCTC[3]

Select item 148056348920.

rs1480563489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:50866129 (GRCh38)
17:48943490 (GRCh37)
Canonical SPDI:: NC_000017.11:50866128:G:A,NC_000017.11:50866128:G:T
Gene:: TOB1 (Varview), TOB1-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.50866129G>A, NC_000017.11:g.50866129G>T, NC_000017.10:g.48943490G>A, NC_000017.10:g.48943490G>T, NM_005749.4:c.-218C>T, NM_005749.4:c.-218C>A, NM_005749.3:c.-218C>T, NM_005749.3:c.-218C>A, NM_001243885.2:c.-432C>T, NM_001243885.2:c.-432C>A, NM_001243885.1:c.-432C>T, NM_001243885.1:c.-432C>A

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