SNP Links for Gene (Select 100128191) - SNP

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Select item 14914764371.

rs1491476437 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:98518145 (GRCh38)
12:98911923 (GRCh37)
Canonical SPDI:: NC_000012.12:98518144:CA:
Gene:: TMPO (Varview), TMPO-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00363/43 (ALFA)
HGVS:: NC_000012.12:g.98518145_98518146del, NC_000012.11:g.98911923_98911924del, NG_021393.1:g.7573_7574del

Select item 14913114772.

rs1491311477 has merged into rs35978276 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:98518155 (GRCh38)
12:98911933 (GRCh37)
Canonical SPDI:: NC_000012.12:98518145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:98518145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:98518145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:98518145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:98518145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:98518145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:98518145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:98518145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:98518145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:98518145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:98518145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98518145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98518145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98518145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98518145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMPO (Varview), TMPO-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.98518155_98518165del, NC_000012.12:g.98518157_98518165del, NC_000012.12:g.98518158_98518165del, NC_000012.12:g.98518159_98518165del, NC_000012.12:g.98518160_98518165del, NC_000012.12:g.98518161_98518165del, NC_000012.12:g.98518162_98518165del, NC_000012.12:g.98518163_98518165del, NC_000012.12:g.98518164_98518165del, NC_000012.12:g.98518165del, NC_000012.12:g.98518165dup, NC_000012.12:g.98518164_98518165dup, NC_000012.12:g.98518163_98518165dup, NC_000012.12:g.98518162_98518165dup, NC_000012.12:g.98518161_98518165dup, NC_000012.11:g.98911933_98911943del, NC_000012.11:g.98911935_98911943del, NC_000012.11:g.98911936_98911943del, NC_000012.11:g.98911937_98911943del, NC_000012.11:g.98911938_98911943del, NC_000012.11:g.98911939_98911943del, NC_000012.11:g.98911940_98911943del, NC_000012.11:g.98911941_98911943del, NC_000012.11:g.98911942_98911943del, NC_000012.11:g.98911943del, NC_000012.11:g.98911943dup, NC_000012.11:g.98911942_98911943dup, NC_000012.11:g.98911941_98911943dup, NC_000012.11:g.98911940_98911943dup, NC_000012.11:g.98911939_98911943dup, NG_021393.1:g.7583_7593del, NG_021393.1:g.7585_7593del, NG_021393.1:g.7586_7593del, NG_021393.1:g.7587_7593del, NG_021393.1:g.7588_7593del, NG_021393.1:g.7589_7593del, NG_021393.1:g.7590_7593del, NG_021393.1:g.7591_7593del, NG_021393.1:g.7592_7593del, NG_021393.1:g.7593del, NG_021393.1:g.7593dup, NG_021393.1:g.7592_7593dup, NG_021393.1:g.7591_7593dup, NG_021393.1:g.7590_7593dup, NG_021393.1:g.7589_7593dup

Select item 14903794583.

rs1490379458 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:98517597 (GRCh38)
12:98911375 (GRCh37)
Canonical SPDI:: NC_000012.12:98517596:A:G
Gene:: TMPO (Varview), TMPO-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.98517597A>G, NC_000012.11:g.98911375A>G, NG_021393.1:g.7025A>G

Select item 14902166734.

rs1490216673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:98517178 (GRCh38)
12:98910956 (GRCh37)
Canonical SPDI:: NC_000012.12:98517177:G:T
Gene:: TMPO (Varview), TMPO-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.98517178G>T, NC_000012.11:g.98910956G>T, NG_021393.1:g.6606G>T

Select item 14901906725.

rs1490190672 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:98516404 (GRCh38)
12:98910182 (GRCh37)
Canonical SPDI:: NC_000012.12:98516403:T:C
Gene:: TMPO (Varview), TMPO-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000012.12:g.98516404T>C, NC_000012.11:g.98910182T>C, NG_021393.1:g.5832T>C

Select item 14901059316.

rs1490105931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:98516000 (GRCh38)
12:98909778 (GRCh37)
Canonical SPDI:: NC_000012.12:98515999:C:T
Gene:: TMPO (Varview), TMPO-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.98516000C>T, NC_000012.11:g.98909778C>T, NG_021393.1:g.5428C>T, NM_001032283.3:c.133C>T, NM_001032283.2:c.133C>T, NM_001032284.3:c.133C>T, NM_001032284.2:c.133C>T, NM_001307975.2:c.133C>T, NM_001307975.1:c.133C>T, NM_003276.2:c.133C>T, XM_005269132.5:c.133C>T, XM_005269132.4:c.133C>T, XM_005269132.3:c.133C>T, XM_005269132.2:c.133C>T, XM_005269132.1:c.133C>T, NR_027157.1:n.227G>A, NP_001027454.1:p.Leu45Phe, NP_001027455.1:p.Leu45Phe, NP_001294904.1:p.Leu45Phe, NP_003267.1:p.Leu45Phe, XP_005269189.1:p.Leu45Phe

Select item 14888651437.

rs1488865143 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:98512962 (GRCh38)
12:98906740 (GRCh37)
Canonical SPDI:: NC_000012.12:98512961:A:G
Gene:: TMPO-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.98512962A>G, NC_000012.11:g.98906740A>G, NG_021393.1:g.2390A>G

Select item 14885501728.

rs1488550172 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:98514720 (GRCh38)
12:98908498 (GRCh37)
Canonical SPDI:: NC_000012.12:98514719:T:A
Gene:: TMPO (Varview), TMPO-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.98514720T>A, NC_000012.11:g.98908498T>A, NG_021393.1:g.4148T>A, NR_027157.1:n.1414A>T

Select item 14884291759.

rs1488429175 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 12:98518042 (GRCh38)
12:98911820 (GRCh37)
Canonical SPDI:: NC_000012.12:98518041:G:A,NC_000012.12:98518041:G:C,NC_000012.12:98518041:G:T
Gene:: TMPO (Varview), TMPO-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000012.12:g.98518042G>A, NC_000012.12:g.98518042G>C, NC_000012.12:g.98518042G>T, NC_000012.11:g.98911820G>A, NC_000012.11:g.98911820G>C, NC_000012.11:g.98911820G>T, NG_021393.1:g.7470G>A, NG_021393.1:g.7470G>C, NG_021393.1:g.7470G>T

Select item 148695738510.

rs1486957385 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:98515943 (GRCh38)
12:98909721 (GRCh37)
Canonical SPDI:: NC_000012.12:98515942:A:T
Gene:: TMPO (Varview), TMPO-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.98515943A>T, NC_000012.11:g.98909721A>T, NG_021393.1:g.5371A>T, NM_001032283.3:c.76A>T, NM_001032283.2:c.76A>T, NM_001032284.3:c.76A>T, NM_001032284.2:c.76A>T, NM_001307975.2:c.76A>T, NM_001307975.1:c.76A>T, NM_003276.2:c.76A>T, XM_005269132.5:c.76A>T, XM_005269132.4:c.76A>T, XM_005269132.3:c.76A>T, XM_005269132.2:c.76A>T, XM_005269132.1:c.76A>T, NP_001027454.1:p.Thr26Ser, NP_001027455.1:p.Thr26Ser, NP_001294904.1:p.Thr26Ser, NP_003267.1:p.Thr26Ser, XP_005269189.1:p.Thr26Ser

Select item 148691990311.

rs1486919903 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 12:98517038 (GRCh38)
12:98910816 (GRCh37)
Canonical SPDI:: NC_000012.12:98517037:T:
Gene:: TMPO (Varview), TMPO-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.98517038del, NC_000012.11:g.98910816del, NG_021393.1:g.6466del

Select item 148668994512.

rs1486689945 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:98515392 (GRCh38)
12:98909170 (GRCh37)
Canonical SPDI:: NC_000012.12:98515391:T:C
Gene:: TMPO (Varview), TMPO-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.98515392T>C, NC_000012.11:g.98909170T>C, NG_021393.1:g.4820T>C, NR_027157.1:n.742A>G

Select item 148601229613.

rs1486012296 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:98515174 (GRCh38)
12:98908952 (GRCh37)
Canonical SPDI:: NC_000012.12:98515173:C:T
Gene:: TMPO (Varview), TMPO-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.98515174C>T, NC_000012.11:g.98908952C>T, NG_021393.1:g.4602C>T, NR_027157.1:n.960G>A

Select item 148592455014.

rs1485924550 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTT>- [Show Flanks]
Chromosome:: 12:98514430 (GRCh38)
12:98908208 (GRCh37)
Canonical SPDI:: NC_000012.12:98514425:GTTTGTTT:GTTT
Gene:: TMPO (Varview), TMPO-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTTTGTTT=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000043/6 (GnomAD)
HGVS:: NC_000012.12:g.98514426GTTT[1], NC_000012.11:g.98908204GTTT[1], NG_021393.1:g.3854GTTT[1], NR_027157.1:n.1701AAAC[1]

Select item 148559325215.

rs1485593252 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:98513888 (GRCh38)
12:98907666 (GRCh37)
Canonical SPDI:: NC_000012.12:98513887:T:C
Gene:: TMPO (Varview), TMPO-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.98513888T>C, NC_000012.11:g.98907666T>C, NG_021393.1:g.3316T>C, NR_027157.1:n.2246A>G

Select item 148522033816.

rs1485220338 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:98517473 (GRCh38)
12:98911251 (GRCh37)
Canonical SPDI:: NC_000012.12:98517472:G:A,NC_000012.12:98517472:G:C
Gene:: TMPO (Varview), TMPO-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.98517473G>A, NC_000012.12:g.98517473G>C, NC_000012.11:g.98911251G>A, NC_000012.11:g.98911251G>C, NG_021393.1:g.6901G>A, NG_021393.1:g.6901G>C

Select item 148376992217.

rs1483769922 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:98516779 (GRCh38)
12:98910557 (GRCh37)
Canonical SPDI:: NC_000012.12:98516778:T:A
Gene:: TMPO (Varview), TMPO-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.98516779T>A, NC_000012.11:g.98910557T>A, NG_021393.1:g.6207T>A

Select item 148355415018.

rs1483554150 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:98513380 (GRCh38)
12:98907158 (GRCh37)
Canonical SPDI:: NC_000012.12:98513379:A:T
Gene:: TMPO-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000026/7 (TOPMED)
T=0.000142/2 (TOMMO)
T=0.000546/1 (Korea1K)
T=0.001369/4 (KOREAN)
HGVS:: NC_000012.12:g.98513380A>T, NC_000012.11:g.98907158A>T, NG_021393.1:g.2808A>T, NR_027157.1:n.2754T>A

Select item 148344530219.

rs1483445302 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:98516466 (GRCh38)
12:98910244 (GRCh37)
Canonical SPDI:: NC_000012.12:98516465:G:A
Gene:: TMPO (Varview), TMPO-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.98516466G>A, NC_000012.11:g.98910244G>A, NG_021393.1:g.5894G>A, XM_017019914.3:c.-679G>A, XM_017019914.2:c.-679G>A, XM_017019914.1:c.-679G>A

Select item 148232844620.

rs1482328446 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 12:98514985 (GRCh38)
12:98908763 (GRCh37)
Canonical SPDI:: NC_000012.12:98514984:GG:G
Gene:: TMPO (Varview), TMPO-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.98514986del, NC_000012.11:g.98908764del, NG_021393.1:g.4414del, NR_027157.1:n.1149del

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