SNP Links for Nucleotide (Select 1039673931) - SNP

Links from Nucleotide

Items: 1 to 20 of 7883

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Select item 14915823231.

rs1491582323 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:1512193 (GRCh38)
16:1562194 (GRCh37)
Canonical SPDI:: NC_000016.10:1512192:CA:
Gene:: IFT140 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000085/9 (GnomAD)
HGVS:: NC_000016.10:g.1512193_1512194del, NC_000016.9:g.1562194_1562195del, NG_032783.1:g.104915_104916del, NG_050910.1:g.23850_23851del

Select item 14911277502.

rs1491127750 [Homo sapiens]

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

Select item 14909215153.

rs1490921515 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:1509348 (GRCh38)
16:1559349 (GRCh37)
Canonical SPDI:: NC_000016.10:1509347:T:A
Gene:: TELO2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.1509348T>A, NC_000016.9:g.1559349T>A, NG_032783.1:g.107761A>T, NG_050910.1:g.21005T>A

Select item 14907977624.

rs1490797762 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:1504473 (GRCh38)
16:1554474 (GRCh37)
Canonical SPDI:: NC_000016.10:1504472:C:A,NC_000016.10:1504472:C:T
Gene:: TELO2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000156/1 (1000Genomes)
A=0.003084/9 (KOREAN)
HGVS:: NC_000016.10:g.1504473C>A, NC_000016.10:g.1504473C>T, NC_000016.9:g.1554474C>A, NC_000016.9:g.1554474C>T, NG_050910.1:g.16130C>A, NG_050910.1:g.16130C>T

Select item 14907741265.

rs1490774126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:1494079 (GRCh38)
16:1544080 (GRCh37)
Canonical SPDI:: NC_000016.10:1494078:C:G,NC_000016.10:1494078:C:T
Gene:: TELO2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1494079C>G, NC_000016.10:g.1494079C>T, NC_000016.9:g.1544080C>G, NC_000016.9:g.1544080C>T, NG_050910.1:g.5736C>G, NG_050910.1:g.5736C>T

Select item 14907665266.

rs1490766526 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1495962 (GRCh38)
16:1545963 (GRCh37)
Canonical SPDI:: NC_000016.10:1495961:C:T
Gene:: TELO2 (Varview)
Functional Consequence:: intron_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_000016.10:g.1495962C>T, NC_000016.9:g.1545963C>T, NG_050910.1:g.7619C>T

Select item 14906375097.

rs1490637509 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:1507133 (GRCh38)
16:1557134 (GRCh37)
Canonical SPDI:: NC_000016.10:1507132:A:G
Gene:: TELO2 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.1507133A>G, NC_000016.9:g.1557134A>G, NG_050910.1:g.18790A>G

Select item 14905221358.

rs1490522135 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1505138 (GRCh38)
16:1555139 (GRCh37)
Canonical SPDI:: NC_000016.10:1505137:C:T
Gene:: TELO2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.1505138C>T, NC_000016.9:g.1555139C>T, NG_050910.1:g.16795C>T

Select item 14902889939.

rs1490288993 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:1493302 (GRCh38)
16:1543303 (GRCh37)
Canonical SPDI:: NC_000016.10:1493301:A:C
Gene:: TELO2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00118/14 (ALFA)
C=0.01589/263 (TOMMO)
C=0.02079/59 (KOREAN)
HGVS:: NC_000016.10:g.1493302A>C, NC_000016.9:g.1543303A>C, NG_050910.1:g.4959A>C

Select item 149028348710.

rs1490283487 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1510336 (GRCh38)
16:1560337 (GRCh37)
Canonical SPDI:: NC_000016.10:1510335:G:A
Gene:: IFT140 (Varview), TELO2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.1510336G>A, NC_000016.9:g.1560337G>A, NG_032783.1:g.106773C>T, NG_050910.1:g.21993G>A, NM_016111.4:c.*400G>A, NM_016111.3:c.*400G>A, NM_001351846.2:c.*400G>A, NM_001351846.1:c.*400G>A, XM_011522773.4:c.*400G>A, XM_011522773.3:c.*400G>A, XM_011522773.2:c.*400G>A, XM_011522773.1:c.*400G>A, XM_011522775.4:c.*400G>A, XM_011522775.3:c.*400G>A, XM_011522775.2:c.*400G>A, XM_011522775.1:c.*400G>A, XM_011522774.3:c.*400G>A, XM_011522774.2:c.*400G>A, XM_011522774.1:c.*400G>A, XM_011522776.3:c.*400G>A, XM_011522776.2:c.*400G>A, XM_011522776.1:c.*400G>A, XM_047434987.1:c.*400G>A, XM_047434988.1:c.*400G>A

Select item 149027354011.

rs1490273540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1495210 (GRCh38)
16:1545211 (GRCh37)
Canonical SPDI:: NC_000016.10:1495209:G:A
Gene:: TELO2 (Varview)
Functional Consequence:: 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_000016.10:g.1495210G>A, NC_000016.9:g.1545211G>A, NG_050910.1:g.6867G>A

Select item 149014767912.

rs1490147679 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:1506536 (GRCh38)
16:1556537 (GRCh37)
Canonical SPDI:: NC_000016.10:1506535:C:G
Gene:: TELO2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.1506536C>G, NC_000016.9:g.1556537C>G, NG_050910.1:g.18193C>G, XM_011522773.4:c.2183C>G, XM_011522773.3:c.2183C>G, XM_011522773.2:c.2183C>G, XM_011522773.1:c.2183C>G, XM_011522775.4:c.2183C>G, XM_011522775.3:c.2183C>G, XM_011522775.2:c.2183C>G, XM_011522775.1:c.2183C>G, XM_011522777.4:c.*56C>G, XM_011522777.3:c.*56C>G, XM_011522777.2:c.*56C>G, XM_011522777.1:c.*56C>G, XM_011522778.4:c.*60C>G, XM_011522778.3:c.*60C>G, XM_011522778.2:c.*60C>G, XM_011522778.1:c.*60C>G, XM_011522774.3:c.2183C>G, XM_011522774.2:c.2183C>G, XM_011522774.1:c.2183C>G, XM_011522776.3:c.2183C>G, XM_011522776.2:c.2183C>G, XM_011522776.1:c.2183C>G, XM_047434990.1:c.*22C>G, XM_047434989.1:c.*22C>G, XP_011521075.1:p.Ala728Gly, XP_011521077.1:p.Ala728Gly, XP_011521076.1:p.Ala728Gly, XP_011521078.1:p.Ala728Gly

Select item 149010287413.

rs1490102874 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1500921 (GRCh38)
16:1550922 (GRCh37)
Canonical SPDI:: NC_000016.10:1500920:C:T
Gene:: TELO2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.1500921C>T, NC_000016.9:g.1550922C>T, NG_050910.1:g.12578C>T

Select item 149010016914.

rs1490100169 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1509649 (GRCh38)
16:1559650 (GRCh37)
Canonical SPDI:: NC_000016.10:1509648:C:T
Gene:: TELO2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000016.10:g.1509649C>T, NC_000016.9:g.1559650C>T, NG_032783.1:g.107460G>A, NG_050910.1:g.21306C>T

Select item 149005772815.

rs1490057728 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:1501469 (GRCh38)
16:1551470 (GRCh37)
Canonical SPDI:: NC_000016.10:1501468:A:G
Gene:: TELO2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
HGVS:: NC_000016.10:g.1501469A>G, NC_000016.9:g.1551470A>G, NG_050910.1:g.13126A>G, NM_016111.4:c.1331A>G, NM_016111.3:c.1331A>G, NM_001351846.2:c.1331A>G, NM_001351846.1:c.1331A>G, XM_011522773.4:c.1331A>G, XM_011522773.3:c.1331A>G, XM_011522773.2:c.1331A>G, XM_011522773.1:c.1331A>G, XM_011522775.4:c.1331A>G, XM_011522775.3:c.1331A>G, XM_011522775.2:c.1331A>G, XM_011522775.1:c.1331A>G, XM_011522777.4:c.1331A>G, XM_011522777.3:c.1331A>G, XM_011522777.2:c.1331A>G, XM_011522777.1:c.1331A>G, XM_011522778.4:c.1331A>G, XM_011522778.3:c.1331A>G, XM_011522778.2:c.1331A>G, XM_011522778.1:c.1331A>G, XM_011522774.3:c.1331A>G, XM_011522774.2:c.1331A>G, XM_011522774.1:c.1331A>G, XM_011522776.3:c.1331A>G, XM_011522776.2:c.1331A>G, XM_011522776.1:c.1331A>G, XM_047434987.1:c.1331A>G, XM_047434988.1:c.1331A>G, XM_047434990.1:c.1331A>G, XM_047434989.1:c.1331A>G, XM_047434991.1:c.1331A>G, XM_047434992.1:c.1331A>G, NP_057195.2:p.Gln444Arg, NP_001338775.1:p.Gln444Arg, XP_011521075.1:p.Gln444Arg, XP_011521077.1:p.Gln444Arg, XP_011521079.1:p.Gln444Arg, XP_011521080.1:p.Gln444Arg, XP_011521076.1:p.Gln444Arg, XP_011521078.1:p.Gln444Arg, XP_047290943.1:p.Gln444Arg, XP_047290944.1:p.Gln444Arg, XP_047290946.1:p.Gln444Arg, XP_047290945.1:p.Gln444Arg, XP_047290947.1:p.Gln444Arg, XP_047290948.1:p.Gln444Arg

Select item 149004288616.

rs1490042886 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:1500380 (GRCh38)
16:1550381 (GRCh37)
Canonical SPDI:: NC_000016.10:1500379:A:T
Gene:: TELO2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1500380A>T, NC_000016.9:g.1550381A>T, NG_050910.1:g.12037A>T, NM_016111.4:c.1036A>T, NM_016111.3:c.1036A>T, NM_001351846.2:c.1036A>T, NM_001351846.1:c.1036A>T, XM_011522773.4:c.1036A>T, XM_011522773.3:c.1036A>T, XM_011522773.2:c.1036A>T, XM_011522773.1:c.1036A>T, XM_011522775.4:c.1036A>T, XM_011522775.3:c.1036A>T, XM_011522775.2:c.1036A>T, XM_011522775.1:c.1036A>T, XM_011522777.4:c.1036A>T, XM_011522777.3:c.1036A>T, XM_011522777.2:c.1036A>T, XM_011522777.1:c.1036A>T, XM_011522778.4:c.1036A>T, XM_011522778.3:c.1036A>T, XM_011522778.2:c.1036A>T, XM_011522778.1:c.1036A>T, XM_011522774.3:c.1036A>T, XM_011522774.2:c.1036A>T, XM_011522774.1:c.1036A>T, XM_011522776.3:c.1036A>T, XM_011522776.2:c.1036A>T, XM_011522776.1:c.1036A>T, XM_047434987.1:c.1036A>T, XM_047434988.1:c.1036A>T, XM_047434990.1:c.1036A>T, XM_047434989.1:c.1036A>T, XM_047434991.1:c.1036A>T, XM_047434992.1:c.1036A>T, XM_047434993.1:c.1036A>T, NP_057195.2:p.Ser346Cys, NP_001338775.1:p.Ser346Cys, XP_011521075.1:p.Ser346Cys, XP_011521077.1:p.Ser346Cys, XP_011521079.1:p.Ser346Cys, XP_011521080.1:p.Ser346Cys, XP_011521076.1:p.Ser346Cys, XP_011521078.1:p.Ser346Cys, XP_047290943.1:p.Ser346Cys, XP_047290944.1:p.Ser346Cys, XP_047290946.1:p.Ser346Cys, XP_047290945.1:p.Ser346Cys, XP_047290947.1:p.Ser346Cys, XP_047290948.1:p.Ser346Cys, XP_047290949.1:p.Ser346Cys

Select item 148999768717.

rs1489997687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1489509 (GRCh38)
16:1539510 (GRCh37)
Canonical SPDI:: NC_000016.10:1489508:C:T
Gene:: PTX4 (Varview)
Functional Consequence:: 2KB_upstream_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_000016.10:g.1489509C>T, NC_000016.9:g.1539510C>T, NG_050910.1:g.1166C>T

Select item 148993278218.

rs1489932782 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1501292 (GRCh38)
16:1551293 (GRCh37)
Canonical SPDI:: NC_000016.10:1501291:C:T
Gene:: TELO2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1501292C>T, NC_000016.9:g.1551293C>T, NG_050910.1:g.12949C>T

Select item 148979991019.

rs1489799910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:1492400 (GRCh38)
16:1542401 (GRCh37)
Canonical SPDI:: NC_000016.10:1492399:C:G
Gene:: TELO2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1492400C>G, NC_000016.9:g.1542401C>G, NG_050910.1:g.4057C>G

Select item 148978856220.

rs1489788562 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1494875 (GRCh38)
16:1544876 (GRCh37)
Canonical SPDI:: NC_000016.10:1494874:C:T
Gene:: TELO2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.1494875C>T, NC_000016.9:g.1544876C>T, NG_050910.1:g.6532C>T

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