SNP Links for Gene (Select 100996301) - SNP

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Select item 14910748701.

rs1491074870 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATT [Show Flanks]
Chromosome:: 1:63320491 (GRCh38)
1:63786163 (GRCh37)
Canonical SPDI:: NC_000001.11:63320491:TT:TTATT
Gene:: FOXD3-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTATT=0./0 (ALFA)
TTA=0.000015/4 (TOPMED)
TTA=0.000042/1 (GnomAD)
HGVS:: NC_000001.11:g.63320493_63320494insATT, NC_000001.10:g.63786164_63786165insATT, NG_012220.1:g.2435_2436insATT

Select item 14904602192.

rs1490460219 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:63322576 (GRCh38)
1:63788247 (GRCh37)
Canonical SPDI:: NC_000001.11:63322575:G:A,NC_000001.11:63322575:G:C
Gene:: FOXD3 (Varview), FOXD3-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_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_000001.11:g.63322576G>A, NC_000001.11:g.63322576G>C, NC_000001.10:g.63788247G>A, NC_000001.10:g.63788247G>C, NG_012220.1:g.4518G>A, NG_012220.1:g.4518G>C, NM_012183.3:c.-483G>A, NM_012183.3:c.-483G>C

Select item 14900757083.

rs1490075708 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:63322326 (GRCh38)
1:63787997 (GRCh37)
Canonical SPDI:: NC_000001.11:63322325:G:A
Gene:: FOXD3 (Varview), FOXD3-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.63322326G>A, NC_000001.10:g.63787997G>A, NG_012220.1:g.4268G>A, NR_121634.1:n.133C>T, NR_121635.1:n.133C>T

Select item 14896153764.

rs1489615376 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:63324169 (GRCh38)
1:63789840 (GRCh37)
Canonical SPDI:: NC_000001.11:63324168:G:A
Gene:: FOXD3 (Varview), FOXD3-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000142/2 (TOMMO)
HGVS:: NC_000001.11:g.63324169G>A, NC_000001.10:g.63789840G>A, NG_012220.1:g.6111G>A, NM_012183.3:c.1111G>A, NM_012183.2:c.1111G>A, NP_036315.1:p.Glu371Lys

Select item 14891138085.

rs1489113808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:63321760 (GRCh38)
1:63787431 (GRCh37)
Canonical SPDI:: NC_000001.11:63321759:C:T
Gene:: FOXD3 (Varview), FOXD3-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.63321760C>T, NC_000001.10:g.63787431C>T, NG_012220.1:g.3702C>T, NR_121634.1:n.464G>A

Select item 14889744266.

rs1488974426 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:63323077 (GRCh38)
1:63788748 (GRCh37)
Canonical SPDI:: NC_000001.11:63323076:G:C
Gene:: FOXD3 (Varview), FOXD3-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.63323077G>C, NC_000001.10:g.63788748G>C, NG_012220.1:g.5019G>C, NM_012183.3:c.19G>C, NM_012183.2:c.19G>C, NP_036315.1:p.Gly7Arg

Select item 14875884887.

rs1487588488 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 1:63324653 (GRCh38)
1:63790324 (GRCh37)
Canonical SPDI:: NC_000001.11:63324652:T:
Gene:: FOXD3 (Varview), FOXD3-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.63324653del, NC_000001.10:g.63790324del, NG_012220.1:g.6595del, NM_012183.3:c.*158del, NM_012183.2:c.*158del

Select item 14865382018.

rs1486538201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:63325738 (GRCh38)
1:63791409 (GRCh37)
Canonical SPDI:: NC_000001.11:63325737:G:A
Gene:: FOXD3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000001.11:g.63325738G>A, NC_000001.10:g.63791409G>A, NG_012220.1:g.7680G>A

Select item 14856770989.

rs1485677098 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:63321535 (GRCh38)
1:63787206 (GRCh37)
Canonical SPDI:: NC_000001.11:63321534:C:T
Gene:: FOXD3 (Varview), FOXD3-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.63321535C>T, NC_000001.10:g.63787206C>T, NG_012220.1:g.3477C>T

Select item 148489549010.

rs1484895490 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:63323148 (GRCh38)
1:63788819 (GRCh37)
Canonical SPDI:: NC_000001.11:63323147:G:A
Gene:: FOXD3 (Varview), FOXD3-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.63323148G>A, NC_000001.10:g.63788819G>A, NG_012220.1:g.5090G>A, NM_012183.3:c.90G>A, NM_012183.2:c.90G>A

Select item 148484473211.

rs1484844732 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:63323866 (GRCh38)
1:63789537 (GRCh37)
Canonical SPDI:: NC_000001.11:63323865:C:G
Gene:: FOXD3 (Varview), FOXD3-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.63323866C>G, NC_000001.10:g.63789537C>G, NG_012220.1:g.5808C>G, NM_012183.3:c.808C>G, NM_012183.2:c.808C>G, NP_036315.1:p.Pro270Ala

Select item 148375997612.

rs1483759976 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:63325338 (GRCh38)
1:63791009 (GRCh37)
Canonical SPDI:: NC_000001.11:63325337:T:C
Gene:: FOXD3 (Varview), FOXD3-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.63325338T>C, NC_000001.10:g.63791009T>C, NG_012220.1:g.7280T>C

Select item 148374100313.

rs1483741003 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:63321234 (GRCh38)
1:63786905 (GRCh37)
Canonical SPDI:: NC_000001.11:63321233:G:C
Gene:: FOXD3 (Varview), FOXD3-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.63321234G>C, NC_000001.10:g.63786905G>C, NG_012220.1:g.3176G>C

Select item 148343278414.

rs1483432784 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:63324877 (GRCh38)
1:63790548 (GRCh37)
Canonical SPDI:: NC_000001.11:63324876:A:G
Gene:: FOXD3 (Varview), FOXD3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.63324877A>G, NC_000001.10:g.63790548A>G, NG_012220.1:g.6819A>G, NM_012183.3:c.*382A>G, NM_012183.2:c.*382A>G

Select item 148179414115.

rs1481794141 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:63324555 (GRCh38)
1:63790226 (GRCh37)
Canonical SPDI:: NC_000001.11:63324554:C:G
Gene:: FOXD3 (Varview), FOXD3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.63324555C>G, NC_000001.10:g.63790226C>G, NG_012220.1:g.6497C>G, NM_012183.3:c.*60C>G, NM_012183.2:c.*60C>G

Select item 148174591916.

rs1481745919 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:63320416 (GRCh38)
1:63786087 (GRCh37)
Canonical SPDI:: NC_000001.11:63320415:C:T
Gene:: FOXD3-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.63320416C>T, NC_000001.10:g.63786087C>T, NG_012220.1:g.2358C>T

Select item 148155488117.

rs1481554881 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:63326423 (GRCh38)
1:63792094 (GRCh37)
Canonical SPDI:: NC_000001.11:63326422:C:T
Gene:: FOXD3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.63326423C>T, NC_000001.10:g.63792094C>T, NG_012220.1:g.8365C>T

Select item 148060541218.

rs1480605412 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:63322644 (GRCh38)
1:63788315 (GRCh37)
Canonical SPDI:: NC_000001.11:63322643:G:C
Gene:: FOXD3 (Varview), FOXD3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.63322644G>C, NC_000001.10:g.63788315G>C, NG_012220.1:g.4586G>C, NM_012183.3:c.-415G>C

Select item 148045198019.

rs1480451980 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:63325125 (GRCh38)
1:63790796 (GRCh37)
Canonical SPDI:: NC_000001.11:63325124:C:A,NC_000001.11:63325124:C:T
Gene:: FOXD3 (Varview), FOXD3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
A=0.000142/2 (TOMMO)
HGVS:: NC_000001.11:g.63325125C>A, NC_000001.11:g.63325125C>T, NC_000001.10:g.63790796C>A, NC_000001.10:g.63790796C>T, NG_012220.1:g.7067C>A, NG_012220.1:g.7067C>T, NM_012183.3:c.*630C>A, NM_012183.3:c.*630C>T, NM_012183.2:c.*630C>A, NM_012183.2:c.*630C>T

Select item 148028674820.

rs1480286748 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:63322366 (GRCh38)
1:63788037 (GRCh37)
Canonical SPDI:: NC_000001.11:63322365:GGG:GG
Gene:: FOXD3 (Varview), FOXD3-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.63322368del, NC_000001.10:g.63788039del, NG_012220.1:g.4310del, NR_121634.1:n.93del, NR_121635.1:n.93del

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