SNP Links for Gene (Select 8277) - SNP

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Select item 14912417881.

rs1491241788 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: X:154305112 (GRCh38)
X:153533464 (GRCh37)
Canonical SPDI:: NC_000023.11:154305111:AG:
Gene:: TKTL1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.154305112_154305113del, NW_003871103.3:g.1739091_1739092del, NG_028264.2:g.14319_14320del, NG_028264.1:g.14438_14439del, NC_000023.10:g.153533464_153533465del, NM_001145934.1:c.-226_-225del

Select item 14911645532.

rs1491164553 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG,GGG [Show Flanks]
Chromosome:: X:154305113 (GRCh38)
X:153533465 (GRCh37)
Canonical SPDI:: NC_000023.11:154305112:GGGGG:GGGG,NC_000023.11:154305112:GGGGG:GGGGGG,NC_000023.11:154305112:GGGGG:GGGGGGG
Gene:: TKTL1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.000008/1 (GnomAD_exomes)
GG=0.00001/1 (GnomAD)
-=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.154305117del, NC_000023.11:g.154305117dup, NC_000023.11:g.154305116_154305117dup, NW_003871103.3:g.1739096del, NW_003871103.3:g.1739096dup, NW_003871103.3:g.1739095_1739096dup, NG_028264.2:g.14324del, NG_028264.2:g.14324dup, NG_028264.2:g.14323_14324dup, NG_028264.1:g.14443del, NG_028264.1:g.14443dup, NG_028264.1:g.14442_14443dup, NC_000023.10:g.153533469del, NC_000023.10:g.153533469dup, NC_000023.10:g.153533468_153533469dup, NM_001145934.1:c.-221del, NM_001145934.1:c.-221dup, NM_001145934.1:c.-222_-221dup

Select item 14911390633.

rs1491139063 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:154322229 (GRCh38)
X:153550575 (GRCh37)
Canonical SPDI:: NC_000023.11:154322228:CA:
Gene:: TKTL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000023.11:g.154322229_154322230del, NW_003871103.3:g.1756208_1756209del, NG_028264.2:g.31436_31437del, NG_028264.1:g.31549_31550del, NC_000023.10:g.153550575_153550576del

Select item 14908732164.

rs1490873216 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: X:154303371 (GRCh38)
X:153531722 (GRCh37)
Canonical SPDI:: NC_000023.11:154303370:C:A,NC_000023.11:154303370:C:G
Gene:: TKTL1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.154303371C>A, NC_000023.11:g.154303371C>G, NW_003871103.3:g.1737350C>A, NW_003871103.3:g.1737350C>G, NG_028264.2:g.12578C>A, NG_028264.2:g.12578C>G, NG_028264.1:g.12696C>A, NG_028264.1:g.12696C>G, NC_000023.10:g.153531722C>A, NC_000023.10:g.153531722C>G

Select item 14908022875.

rs1490802287 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:154302741 (GRCh38)
X:153531092 (GRCh37)
Canonical SPDI:: NC_000023.11:154302740:T:A
Gene:: TKTL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.154302741T>A, NW_003871103.3:g.1736720T>A, NG_028264.2:g.11948T>A, NG_028264.1:g.12066T>A, NC_000023.10:g.153531092T>A

Select item 14907122286.

rs1490712228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154324283 (GRCh38)
X:153552629 (GRCh37)
Canonical SPDI:: NC_000023.11:154324282:G:A
Gene:: TKTL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.154324283G>A, NW_003871103.3:g.1758262G>A, NG_028264.2:g.33490G>A, NG_028264.1:g.33603G>A, NC_000023.10:g.153552629G>A

Select item 14905477607.

rs1490547760 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:154324777 (GRCh38)
X:153553123 (GRCh37)
Canonical SPDI:: NC_000023.11:154324776:A:G
Gene:: TKTL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.154324777A>G, NW_003871103.3:g.1758756A>G, NG_028264.2:g.33984A>G, NG_028264.1:g.34097A>G, NC_000023.10:g.153553123A>G

Select item 14904534948.

rs1490453494 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:154310762 (GRCh38)
X:153539113 (GRCh37)
Canonical SPDI:: NC_000023.11:154310761:C:T
Gene:: TKTL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.154310762C>T, NW_003871103.3:g.1744741C>T, NG_028264.2:g.19969C>T, NG_028264.1:g.20087C>T, NC_000023.10:g.153539113C>T

Select item 14904481759.

rs1490448175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:154309833 (GRCh38)
X:153538185 (GRCh37)
Canonical SPDI:: NC_000023.11:154309832:C:T
Gene:: TKTL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.154309833C>T, NW_003871103.3:g.1743812C>T, NG_028264.2:g.19040C>T, NG_028264.1:g.19159C>T, NC_000023.10:g.153538185C>T

Select item 149041555110.

rs1490415551 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: X:154297477 (GRCh38)
X:153525829 (GRCh37)
Canonical SPDI:: NC_000023.11:154297476:C:A,NC_000023.11:154297476:C:G
Gene:: TKTL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.00001/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.154297477C>A, NC_000023.11:g.154297477C>G, NW_003871103.3:g.1731456C>A, NW_003871103.3:g.1731456C>G, NG_028264.2:g.6684C>A, NG_028264.2:g.6684C>G, NG_028264.1:g.6803C>A, NG_028264.1:g.6803C>G, NC_000023.10:g.153525829C>A, NC_000023.10:g.153525829C>G

Select item 149039979511.

rs1490399795 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:154296631 (GRCh38)
X:153524983 (GRCh37)
Canonical SPDI:: NC_000023.11:154296630:T:A
Gene:: TEX28 (Varview), TKTL1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.154296631T>A, NW_003871103.3:g.1730610T>A, NG_028264.2:g.5838T>A, NG_028264.1:g.5957T>A, NC_000023.10:g.153524983T>A

Select item 149031264612.

rs1490312646 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:154302363 (GRCh38)
X:153530714 (GRCh37)
Canonical SPDI:: NC_000023.11:154302362:C:G
Gene:: TKTL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.154302363C>G, NW_003871103.3:g.1736342C>G, NG_028264.2:g.11570C>G, NG_028264.1:g.11688C>G, NC_000023.10:g.153530714C>G

Select item 149022142413.

rs1490221424 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:154323957 (GRCh38)
X:153552303 (GRCh37)
Canonical SPDI:: NC_000023.11:154323956:A:G
Gene:: TKTL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.154323957A>G, NW_003871103.3:g.1757936A>G, NG_028264.2:g.33164A>G, NG_028264.1:g.33277A>G, NC_000023.10:g.153552303A>G

Select item 149012686214.

rs1490126862 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:154309986 (GRCh38)
X:153538338 (GRCh37)
Canonical SPDI:: NC_000023.11:154309985:T:C
Gene:: TKTL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.154309986T>C, NW_003871103.3:g.1743965T>C, NG_028264.2:g.19193T>C, NG_028264.1:g.19312T>C, NC_000023.10:g.153538338T>C

Select item 149008908715.

rs1490089087 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:154296709 (GRCh38)
X:153525061 (GRCh37)
Canonical SPDI:: NC_000023.11:154296708:T:C
Gene:: TEX28 (Varview), TKTL1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.154296709T>C, NW_003871103.3:g.1730688T>C, NG_028264.2:g.5916T>C, NG_028264.1:g.6035T>C, NC_000023.10:g.153525061T>C

Select item 149003847616.

rs1490038476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154296066 (GRCh38)
X:153524419 (GRCh37)
Canonical SPDI:: NC_000023.11:154296065:G:A
Gene:: TEX28 (Varview), TKTL1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.154296066G>A, NW_003871103.3:g.1730045G>A, NG_028264.2:g.5273G>A, NG_028264.1:g.5393G>A, NC_000023.10:g.153524419G>A

Select item 148998606517.

rs1489986065 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:154323542 (GRCh38)
X:153551888 (GRCh37)
Canonical SPDI:: NC_000023.11:154323541:A:T
Gene:: TKTL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.154323542A>T, NW_003871103.3:g.1757521A>T, NG_028264.2:g.32749A>T, NG_028264.1:g.32862A>T, NC_000023.10:g.153551888A>T

Select item 148995729418.

rs1489957294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154309357 (GRCh38)
X:153537709 (GRCh37)
Canonical SPDI:: NC_000023.11:154309356:G:A
Gene:: TKTL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000016/3 (GnomAD_exomes)
A=0.000048/5 (GnomAD)
A=0.000072/19 (TOPMED)
HGVS:: NC_000023.11:g.154309357G>A, NW_003871103.3:g.1743336G>A, NG_028264.2:g.18564G>A, NG_028264.1:g.18683G>A, NM_012253.4:c.265G>A, NM_012253.3:c.265G>A, NM_001145933.2:c.247G>A, NM_001145933.1:c.247G>A, NM_001145934.2:c.97G>A, NM_001145934.1:c.97G>A, NC_000023.10:g.153537709G>A, NP_036385.3:p.Val89Met, NP_001139405.1:p.Val83Met, NP_001139406.1:p.Val33Met

Select item 148992596919.

rs1489925969 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:154297183 (GRCh38)
X:153525535 (GRCh37)
Canonical SPDI:: NC_000023.11:154297182:T:G
Gene:: TEX28 (Varview), TKTL1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.154297183T>G, NW_003871103.3:g.1731162T>G, NG_028264.2:g.6390T>G, NG_028264.1:g.6509T>G, NC_000023.10:g.153525535T>G

Select item 148981141820.

rs1489811418 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: X:154330856 (GRCh38)
X:153559206 (GRCh37)
Canonical SPDI:: NC_000023.11:154330853:AGAG:AG
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.0002/53 (TOPMED)
-=0.000212/22 (GnomAD)
HGVS:: NC_000023.11:g.154330854AG[1], NW_003871103.3:g.1764833AG[1], NG_028264.2:g.40061AG[1], NG_028264.1:g.40178AG[1], NC_000023.10:g.153559204AG[1]

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