SNP Links for Gene (Select 105374389) - SNP

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Links from Gene

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Select item 14909570821.

rs1490957082 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 2:29475308 (GRCh38)
2:29698174 (GRCh37)
Canonical SPDI:: NC_000002.12:29475307:TT:T
Gene:: ALK (Varview), LOC105374389 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0.000084/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.29475309del, NC_000002.11:g.29698175del, NG_009445.1:g.451259del

Select item 14909326022.

rs1490932602 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:29474341 (GRCh38)
2:29697207 (GRCh37)
Canonical SPDI:: NC_000002.12:29474340:G:A
Gene:: ALK (Varview), LOC105374389 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.29474341G>A, NC_000002.11:g.29697207G>A, NG_009445.1:g.452226C>T

Select item 14904315453.

rs1490431545 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:29474318 (GRCh38)
2:29697184 (GRCh37)
Canonical SPDI:: NC_000002.12:29474317:T:G
Gene:: ALK (Varview), LOC105374389 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.29474318T>G, NC_000002.11:g.29697184T>G, NG_009445.1:g.452249A>C

Select item 14903765734.

rs1490376573 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:29476078 (GRCh38)
2:29698945 (GRCh37)
Canonical SPDI:: NC_000002.12:29476078:T:TT
Gene:: ALK (Varview), LOC105374389 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.29476079dup, NC_000002.11:g.29698945dup, NG_009445.1:g.450488dup

Select item 14888490235.

rs1488849023 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:29476066 (GRCh38)
2:29698932 (GRCh37)
Canonical SPDI:: NC_000002.12:29476065:G:A
Gene:: ALK (Varview), LOC105374389 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.29476066G>A, NC_000002.11:g.29698932G>A, NG_009445.1:g.450501C>T

Select item 14877964086.

rs1487796408 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:29476061 (GRCh38)
2:29698927 (GRCh37)
Canonical SPDI:: NC_000002.12:29476060:C:T
Gene:: ALK (Varview), LOC105374389 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000043/6 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.29476061C>T, NC_000002.11:g.29698927C>T, NG_009445.1:g.450506G>A

Select item 14874712817.

rs1487471281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:29475093 (GRCh38)
2:29697959 (GRCh37)
Canonical SPDI:: NC_000002.12:29475092:C:T
Gene:: ALK (Varview), LOC105374389 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.29475093C>T, NC_000002.11:g.29697959C>T, NG_009445.1:g.451474G>A, NR_136317.1:n.45G>A

Select item 14872079758.

rs1487207975 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:29476538 (GRCh38)
2:29699404 (GRCh37)
Canonical SPDI:: NC_000002.12:29476537:C:T
Gene:: ALK (Varview), LOC105374389 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.29476538C>T, NC_000002.11:g.29699404C>T, NG_009445.1:g.450029G>A

Select item 14871588169.

rs1487158816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:29475553 (GRCh38)
2:29698419 (GRCh37)
Canonical SPDI:: NC_000002.12:29475552:C:G,NC_000002.12:29475552:C:T
Gene:: ALK (Varview), LOC105374389 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.29475553C>G, NC_000002.12:g.29475553C>T, NC_000002.11:g.29698419C>G, NC_000002.11:g.29698419C>T, NG_009445.1:g.451014G>C, NG_009445.1:g.451014G>A

Select item 148655402610.

rs1486554026 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:29477359 (GRCh38)
2:29700225 (GRCh37)
Canonical SPDI:: NC_000002.12:29477358:A:T
Gene:: ALK (Varview), LOC105374389 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_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_000002.12:g.29477359A>T, NC_000002.11:g.29700225A>T, NG_009445.1:g.449208T>A

Select item 148620390311.

rs1486203903 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:29476952 (GRCh38)
2:29699818 (GRCh37)
Canonical SPDI:: NC_000002.12:29476951:A:G
Gene:: ALK (Varview), LOC105374389 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_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_000002.12:g.29476952A>G, NC_000002.11:g.29699818A>G, NG_009445.1:g.449615T>C

Select item 148571622512.

rs1485716225 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:29476003 (GRCh38)
2:29698869 (GRCh37)
Canonical SPDI:: NC_000002.12:29476002:A:G
Gene:: ALK (Varview), LOC105374389 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_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_000002.12:g.29476003A>G, NC_000002.11:g.29698869A>G, NG_009445.1:g.450564T>C

Select item 148207032013.

rs1482070320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:29475906 (GRCh38)
2:29698772 (GRCh37)
Canonical SPDI:: NC_000002.12:29475905:G:A
Gene:: ALK (Varview), LOC105374389 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.29475906G>A, NC_000002.11:g.29698772G>A, NG_009445.1:g.450661C>T

Select item 148131330814.

rs1481313308 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:29474533 (GRCh38)
2:29697399 (GRCh37)
Canonical SPDI:: NC_000002.12:29474532:A:G
Gene:: ALK (Varview), LOC105374389 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.29474533A>G, NC_000002.11:g.29697399A>G, NG_009445.1:g.452034T>C

Select item 148068413715.

rs1480684137 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:29475927 (GRCh38)
2:29698793 (GRCh37)
Canonical SPDI:: NC_000002.12:29475926:C:A,NC_000002.12:29475926:C:T
Gene:: ALK (Varview), LOC105374389 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000132/2 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000002.12:g.29475927C>A, NC_000002.12:g.29475927C>T, NC_000002.11:g.29698793C>A, NC_000002.11:g.29698793C>T, NG_009445.1:g.450640G>T, NG_009445.1:g.450640G>A

Select item 148036145816.

rs1480361458 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:29475021 (GRCh38)
2:29697887 (GRCh37)
Canonical SPDI:: NC_000002.12:29475020:G:T
Gene:: ALK (Varview), LOC105374389 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000199/3 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000015/2 (GnomAD)
T=0.000676/3 (Estonian)
HGVS:: NC_000002.12:g.29475021G>T, NC_000002.11:g.29697887G>T, NG_009445.1:g.451546C>A, NR_136317.1:n.117C>A

Select item 147996302017.

rs1479963020 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:29475824 (GRCh38)
2:29698690 (GRCh37)
Canonical SPDI:: NC_000002.12:29475821:CTCT:CT
Gene:: ALK (Varview), LOC105374389 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.29475822CT[1], NC_000002.11:g.29698688CT[1], NG_009445.1:g.450742AG[1]

Select item 147958534918.

rs1479585349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:29474913 (GRCh38)
2:29697779 (GRCh37)
Canonical SPDI:: NC_000002.12:29474912:C:T
Gene:: ALK (Varview), LOC105374389 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.29474913C>T, NC_000002.11:g.29697779C>T, NG_009445.1:g.451654G>A, NR_136317.1:n.225G>A

Select item 147892947819.

rs1478929478 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:29475667 (GRCh38)
2:29698533 (GRCh37)
Canonical SPDI:: NC_000002.12:29475666:C:T
Gene:: ALK (Varview), LOC105374389 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.29475667C>T, NC_000002.11:g.29698533C>T, NG_009445.1:g.450900G>A

Select item 147833006320.

rs1478330063 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:29476159 (GRCh38)
2:29699025 (GRCh37)
Canonical SPDI:: NC_000002.12:29476158:C:T
Gene:: ALK (Varview), LOC105374389 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_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_000002.12:g.29476159C>T, NC_000002.11:g.29699025C>T, NG_009445.1:g.450408G>A