SNP Links for Gene (Select 1798) - SNP

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Items: 1 to 20 of 2073

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Select item 14907812091.

rs1490781209 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:119101902 (GRCh38)
11:118972612 (GRCh37)
Canonical SPDI:: NC_000011.10:119101901:T:A,NC_000011.10:119101901:T:C
Gene:: DPAGT1 (Varview), C2CD2L (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.119101902T>A, NC_000011.10:g.119101902T>C, NC_000011.9:g.118972612T>A, NC_000011.9:g.118972612T>C, NG_008918.1:g.5174A>T, NG_008918.1:g.5174A>G, NM_001382.3:c.-247A>T, NM_001382.3:c.-247A>G, NM_203316.1:c.-447A>T, NM_203316.1:c.-447A>G

Select item 14904967112.

rs1490496711 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:119096454 (GRCh38)
11:118967164 (GRCh37)
Canonical SPDI:: NC_000011.10:119096453:C:A
Gene:: DPAGT1 (Varview), H2AX (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.119096454C>A, NC_000011.9:g.118967164C>A, NG_008918.1:g.10622G>T, XM_047426508.1:c.*544G>T

Select item 14888912153.

rs1488891215 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:119100063 (GRCh38)
11:118970773 (GRCh37)
Canonical SPDI:: NC_000011.10:119100062:C:G
Gene:: DPAGT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.119100063C>G, NC_000011.9:g.118970773C>G, NG_008918.1:g.7013G>C

Select item 14888861234.

rs1488886123 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:119099364 (GRCh38)
11:118970074 (GRCh37)
Canonical SPDI:: NC_000011.10:119099363:C:T
Gene:: DPAGT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000016/2 (GnomAD)
T=0.000026/7 (TOPMED)
T=0.000546/1 (Korea1K)
T=0.001947/33 (TOMMO)
HGVS:: NC_000011.10:g.119099364C>T, NC_000011.9:g.118970074C>T, NG_008918.1:g.7712G>A

Select item 14886590425.

rs1488659042 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:119100379 (GRCh38)
11:118971089 (GRCh37)
Canonical SPDI:: NC_000011.10:119100378:G:A
Gene:: DPAGT1 (Varview), C2CD2L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.119100379G>A, NC_000011.9:g.118971089G>A, NG_008918.1:g.6697C>T, NM_001382.4:c.526C>T, NM_001382.3:c.526C>T, XM_005271422.4:c.526C>T, XM_005271422.3:c.526C>T, XM_005271422.2:c.526C>T, XM_005271422.1:c.526C>T, XM_011542648.3:c.205C>T, XM_011542648.2:c.205C>T, XM_011542648.1:c.205C>T, XM_017017294.3:c.526C>T, XM_017017294.2:c.526C>T, XM_017017294.1:c.526C>T, XM_017017295.2:c.10C>T, XM_017017295.1:c.10C>T, XM_047426508.1:c.526C>T, NM_203316.1:c.205C>T, XM_047426509.1:c.526C>T, XM_047426510.1:c.526C>T

Select item 14882343156.

rs1488234315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:119102523 (GRCh38)
11:118973233 (GRCh37)
Canonical SPDI:: NC_000011.10:119102522:G:T
Gene:: DPAGT1 (Varview), C2CD2L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.119102523G>T, NC_000011.9:g.118973233G>T, NG_008918.1:g.4553C>A

Select item 14879549627.

rs1487954962 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:119097812 (GRCh38)
11:118968522 (GRCh37)
Canonical SPDI:: NC_000011.10:119097811:G:T
Gene:: DPAGT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.119097812G>T, NC_000011.9:g.118968522G>T, NG_008918.1:g.9264C>A

Select item 14879386888.

rs1487938688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:119099194 (GRCh38)
11:118969904 (GRCh37)
Canonical SPDI:: NC_000011.10:119099193:G:T
Gene:: DPAGT1 (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_000011.10:g.119099194G>T, NC_000011.9:g.118969904G>T, NG_008918.1:g.7882C>A

Select item 14879047929.

rs1487904792 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:119099504 (GRCh38)
11:118970214 (GRCh37)
Canonical SPDI:: NC_000011.10:119099503:T:C
Gene:: DPAGT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.119099504T>C, NC_000011.9:g.118970214T>C, NG_008918.1:g.7572A>G

Select item 148761133710.

rs1487611337 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:119099652 (GRCh38)
11:118970362 (GRCh37)
Canonical SPDI:: NC_000011.10:119099651:G:C
Gene:: DPAGT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.119099652G>C, NC_000011.9:g.118970362G>C, NG_008918.1:g.7424C>G

Select item 148696028211.

rs1486960282 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:119098704 (GRCh38)
11:118969414 (GRCh37)
Canonical SPDI:: NC_000011.10:119098703:T:C
Gene:: DPAGT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.119098704T>C, NC_000011.9:g.118969414T>C, NG_008918.1:g.8372A>G

Select item 148681081712.

rs1486810817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:119097892 (GRCh38)
11:118968602 (GRCh37)
Canonical SPDI:: NC_000011.10:119097891:G:C
Gene:: DPAGT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_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_000011.10:g.119097892G>C, NC_000011.9:g.118968602G>C, NG_008918.1:g.9184C>G, NM_001382.4:c.880C>G, NM_001382.3:c.880C>G, XM_005271422.4:c.880C>G, XM_005271422.3:c.880C>G, XM_005271422.2:c.880C>G, XM_005271422.1:c.880C>G, XM_011542648.3:c.559C>G, XM_011542648.2:c.559C>G, XM_011542648.1:c.559C>G, XM_017017295.2:c.364C>G, XM_017017295.1:c.364C>G, XM_047426508.1:c.880C>G, NM_203316.1:c.559C>G, XM_047426509.1:c.880C>G, NP_001373.2:p.Leu294Val, XP_005271479.1:p.Leu294Val, XP_011540950.1:p.Leu187Val, XP_016872784.1:p.Leu122Val, XP_047282464.1:p.Leu294Val, XP_047282465.1:p.Leu294Val

Select item 148639607413.

rs1486396074 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:119097399 (GRCh38)
11:118968110 (GRCh37)
Canonical SPDI:: NC_000011.10:119097399:A:AA
Gene:: DPAGT1 (Varview), H2AX (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.119097400dup, NC_000011.9:g.118968110dup, NG_008918.1:g.9676dup

Select item 148581287814.

rs1485812878 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:119099814 (GRCh38)
11:118970524 (GRCh37)
Canonical SPDI:: NC_000011.10:119099813:T:G
Gene:: DPAGT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00007/2 (TOMMO)
HGVS:: NC_000011.10:g.119099814T>G, NC_000011.9:g.118970524T>G, NG_008918.1:g.7262A>C

Select item 148538736415.

rs1485387364 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:119100080 (GRCh38)
11:118970790 (GRCh37)
Canonical SPDI:: NC_000011.10:119100079:G:A
Gene:: DPAGT1 (Varview)
Functional Consequence:: intron_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_000011.10:g.119100080G>A, NC_000011.9:g.118970790G>A, NG_008918.1:g.6996C>T

Select item 148482851516.

rs1484828515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:119102267 (GRCh38)
11:118972977 (GRCh37)
Canonical SPDI:: NC_000011.10:119102266:C:G
Gene:: DPAGT1 (Varview), C2CD2L (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.119102267C>G, NC_000011.9:g.118972977C>G, NG_008918.1:g.4809G>C, XM_047427937.1:c.-532C>G

Select item 148424987217.

rs1484249872 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:119103150 (GRCh38)
11:118973860 (GRCh37)
Canonical SPDI:: NC_000011.10:119103149:C:T
Gene:: DPAGT1 (Varview), C2CD2L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.119103150C>T, NC_000011.9:g.118973860C>T, NG_008918.1:g.3926G>A

Select item 148370486118.

rs1483704861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:119096772 (GRCh38)
11:118967482 (GRCh37)
Canonical SPDI:: NC_000011.10:119096771:C:G
Gene:: DPAGT1 (Varview), H2AX (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.119096772C>G, NC_000011.9:g.118967482C>G, NG_008918.1:g.10304G>C, NM_001382.4:c.*226G>C, NM_001382.3:c.*226G>C, XM_005271422.4:c.*226G>C, XM_005271422.3:c.*226G>C, XM_005271422.2:c.*226G>C, XM_005271422.1:c.*226G>C, XM_011542648.3:c.*226G>C, XM_011542648.2:c.*226G>C, XM_011542648.1:c.*226G>C, XM_017017295.2:c.*226G>C, XM_017017295.1:c.*226G>C, XM_047426508.1:c.*226G>C, NM_203316.1:c.*226G>C

Select item 148367962419.

rs1483679624 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 11:119102338 (GRCh38)
11:118973048 (GRCh37)
Canonical SPDI:: NC_000011.10:119102337:TT:T
Gene:: DPAGT1 (Varview), C2CD2L (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.119102339del, NC_000011.9:g.118973049del, NG_008918.1:g.4738del, XM_047427937.1:c.-460del

Select item 148356163720.

rs1483561637 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:119103504 (GRCh38)
11:118974214 (GRCh37)
Canonical SPDI:: NC_000011.10:119103503:C:A,NC_000011.10:119103503:C:T
Gene:: DPAGT1 (Varview), C2CD2L (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.119103504C>A, NC_000011.10:g.119103504C>T, NC_000011.9:g.118974214C>A, NC_000011.9:g.118974214C>T, NG_008918.1:g.3572G>T, NG_008918.1:g.3572G>A

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