SNP Links for Gene (Select 430) - SNP

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Select item 14908380931.

rs1490838093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:2271561 (GRCh38)
11:2292791 (GRCh37)
Canonical SPDI:: NC_000011.10:2271560:C:G,NC_000011.10:2271560:C:T
Gene:: ASCL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
G=0.000106/2 (TOMMO)
HGVS:: NC_000011.10:g.2271561C>G, NC_000011.10:g.2271561C>T, NC_000011.9:g.2292791C>G, NC_000011.9:g.2292791C>T

Select item 14907668112.

rs1490766811 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2269910 (GRCh38)
11:2291140 (GRCh37)
Canonical SPDI:: NC_000011.10:2269909:G:A
Gene:: ASCL2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.2269910G>A, NC_000011.9:g.2291140G>A, NM_005170.3:c.423C>T, NM_005170.2:c.423C>T

Select item 14907588033.

rs1490758803 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:2270608 (GRCh38)
11:2291838 (GRCh37)
Canonical SPDI:: NC_000011.10:2270607:C:G,NC_000011.10:2270607:C:T
Gene:: ASCL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.00591/167 (TOMMO)
HGVS:: NC_000011.10:g.2270608C>G, NC_000011.10:g.2270608C>T, NC_000011.9:g.2291838C>G, NC_000011.9:g.2291838C>T, NM_005170.2:c.-276G>C, NM_005170.2:c.-276G>A

Select item 14906799844.

rs1490679984 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:2271369 (GRCh38)
11:2292599 (GRCh37)
Canonical SPDI:: NC_000011.10:2271368:G:C
Gene:: ASCL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.2271369G>C, NC_000011.9:g.2292599G>C

Select item 14905945645.

rs1490594564 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:2270953 (GRCh38)
11:2292183 (GRCh37)
Canonical SPDI:: NC_000011.10:2270952:A:G
Gene:: ASCL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.2270953A>G, NC_000011.9:g.2292183A>G

Select item 14905178896.

rs1490517889 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:2271757 (GRCh38)
11:2292987 (GRCh37)
Canonical SPDI:: NC_000011.10:2271756:CT:
Gene:: ASCL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.2271757_2271758del, NC_000011.9:g.2292987_2292988del

Select item 14902667347.

rs1490266734 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:2270269 (GRCh38)
11:2291499 (GRCh37)
Canonical SPDI:: NC_000011.10:2270268:C:A
Gene:: ASCL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.2270269C>A, NC_000011.9:g.2291499C>A, NM_005170.3:c.64G>T, NM_005170.2:c.64G>T, NP_005161.1:p.Ala22Ser

Select item 14878133268.

rs1487813326 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:2268723 (GRCh38)
11:2289953 (GRCh37)
Canonical SPDI:: NC_000011.10:2268722:C:A,NC_000011.10:2268722:C:T
Gene:: ASCL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.2268723C>A, NC_000011.10:g.2268723C>T, NC_000011.9:g.2289953C>A, NC_000011.9:g.2289953C>T, NM_005170.3:c.*422G>T, NM_005170.3:c.*422G>A, NM_005170.2:c.*422G>T, NM_005170.2:c.*422G>A

Select item 14874663449.

rs1487466344 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:2269605 (GRCh38)
11:2290835 (GRCh37)
Canonical SPDI:: NC_000011.10:2269604:T:C
Gene:: ASCL2 (Varview)
Functional Consequence:: intron_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_000011.10:g.2269605T>C, NC_000011.9:g.2290835T>C

Select item 148688372810.

rs1486883728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:2268303 (GRCh38)
11:2289533 (GRCh37)
Canonical SPDI:: NC_000011.10:2268302:C:A
Gene:: ASCL2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.2268303C>A, NC_000011.9:g.2289533C>A

Select item 148668309111.

rs1486683091 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:2272731 (GRCh38)
11:2293961 (GRCh37)
Canonical SPDI:: NC_000011.10:2272730:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000034/9 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.2272731T>C, NC_000011.9:g.2293961T>C

Select item 148649014912.

rs1486490149 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2270112 (GRCh38)
11:2291342 (GRCh37)
Canonical SPDI:: NC_000011.10:2270111:C:T
Gene:: ASCL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.2270112C>T, NC_000011.9:g.2291342C>T, NM_005170.3:c.221G>A, NM_005170.2:c.221G>A, NP_005161.1:p.Arg74Gln

Select item 148610743913.

rs1486107439 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2270192 (GRCh38)
11:2291422 (GRCh37)
Canonical SPDI:: NC_000011.10:2270191:G:A
Gene:: ASCL2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.2270192G>A, NC_000011.9:g.2291422G>A, NM_005170.3:c.141C>T, NM_005170.2:c.141C>T

Select item 148588079814.

rs1485880798 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2269878 (GRCh38)
11:2291108 (GRCh37)
Canonical SPDI:: NC_000011.10:2269877:C:T
Gene:: ASCL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.2269878C>T, NC_000011.9:g.2291108C>T, NM_005170.3:c.455G>A, NM_005170.2:c.455G>A, NP_005161.1:p.Arg152His

Select item 148556914415.

rs1485569144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:2269036 (GRCh38)
11:2290266 (GRCh37)
Canonical SPDI:: NC_000011.10:2269035:G:C
Gene:: ASCL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.2269036G>C, NC_000011.9:g.2290266G>C, NM_005170.3:c.*109C>G, NM_005170.2:c.*109C>G

Select item 148537456616.

rs1485374566 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2269279 (GRCh38)
11:2290509 (GRCh37)
Canonical SPDI:: NC_000011.10:2269278:C:T
Gene:: ASCL2 (Varview)
Functional Consequence:: 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_000011.10:g.2269279C>T, NC_000011.9:g.2290509C>T

Select item 148531413317.

rs1485314133 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2268310 (GRCh38)
11:2289540 (GRCh37)
Canonical SPDI:: NC_000011.10:2268309:C:T
Gene:: ASCL2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.2268310C>T, NC_000011.9:g.2289540C>T

Select item 148466751018.

rs1484667510 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2270024 (GRCh38)
11:2291254 (GRCh37)
Canonical SPDI:: NC_000011.10:2270023:C:T
Gene:: ASCL2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000011.10:g.2270024C>T, NC_000011.9:g.2291254C>T, NM_005170.3:c.309G>A, NM_005170.2:c.309G>A

Select item 148418396319.

rs1484183963 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:2271642 (GRCh38)
11:2292872 (GRCh37)
Canonical SPDI:: NC_000011.10:2271641:T:C
Gene:: ASCL2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.2271642T>C, NC_000011.9:g.2292872T>C

Select item 148340954920.

rs1483409549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:2270902 (GRCh38)
11:2292132 (GRCh37)
Canonical SPDI:: NC_000011.10:2270901:T:A
Gene:: ASCL2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000223/1 (Estonian)
A=0.000393/55 (GnomAD)
HGVS:: NC_000011.10:g.2270902T>A, NC_000011.9:g.2292132T>A, NM_005170.2:c.-570A>T

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