SNP Links for Gene (Select 10984) - SNP

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Select item 14915814091.

rs1491581409 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 11:2627658 (GRCh38)
11:2648888 (GRCh37)
Canonical SPDI:: NC_000011.10:2627657:TT:
Gene:: KCNQ1 (Varview), KCNQ1OT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.2627658_2627659del, NC_000011.9:g.2648888_2648889del, NG_016178.2:g.77340_77341del, NR_002728.3:n.72340_72341del, NG_008935.1:g.187668_187669del

Select item 14914923582.

rs1491492358 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:2680227 (GRCh38)
11:2701458 (GRCh37)
Canonical SPDI:: NC_000011.10:2680227:G:GG
Gene:: KCNQ1 (Varview), KCNQ1OT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000008/1 (GnomAD)
HGVS:: NC_000011.10:g.2680228dup, NC_000011.9:g.2701458dup, NG_016178.2:g.24771dup, NR_002728.3:n.19771dup, NG_008935.1:g.240238dup

Select item 14914745933.

rs1491474593 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CTTTTTTTTTTTTTTTTTTTT
Chromosome:: no mapping
Canonical SPDI:

Select item 14914275904.

rs1491427590 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTTGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:2648982 (GRCh38)
11:2670213 (GRCh37)
Canonical SPDI:: NC_000011.10:2648982:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:2648982:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT
Gene:: KCNQ1 (Varview), KCNQ1OT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: TTTTTTTTTTTTTTTTTTTTTTTTTTTG=0.00009/1 (GnomAD)
HGVS:: NC_000011.10:g.2648983_2649004T[27]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.2648983_2649004T[48]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.2670213_2670234T[27]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.2670213_2670234T[48]CTTTTTTTTTTTTTTTTTTTTTT[1], NG_016178.2:g.55995_56016A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_016178.2:g.55995_56016A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NR_002728.3:n.50995_51016A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NR_002728.3:n.50995_51016A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_008935.1:g.208993_209014T[27]GTTTTTTTTTTTTTTTTTTTTTT[1], NG_008935.1:g.208993_209014T[48]CTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14914174315.

Error occurred: cannot get document summary

Select item 14913206356.

rs1491320635 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 11:2680227 (GRCh38)
11:2701457 (GRCh37)
Canonical SPDI:: NC_000011.10:2680226:AG:
Gene:: KCNQ1 (Varview), KCNQ1OT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.2680227_2680228del, NC_000011.9:g.2701457_2701458del, NG_016178.2:g.24771_24772del, NR_002728.3:n.19771_19772del, NG_008935.1:g.240237_240238del

Select item 14912171247.

rs1491217124 has merged into rs765964478 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT [Show Flanks]
Chromosome:: 11:2627666 (GRCh38)
11:2648896 (GRCh37)
Canonical SPDI:: NC_000011.10:2627658:TGTGTGTGTGT:TGTGTGT,NC_000011.10:2627658:TGTGTGTGTGT:TGTGTGTGT,NC_000011.10:2627658:TGTGTGTGTGT:TGTGTGTGTGTGT
Gene:: KCNQ1 (Varview), KCNQ1OT1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGT=0./0 (ALFA)
-=0./0 (ALSPAC)
-=0.00027/1 (TWINSUK)
-=0.00167/1 (NorthernSweden)
HGVS:: NC_000011.10:g.2627660GT[3], NC_000011.10:g.2627660GT[4], NC_000011.10:g.2627660GT[6], NC_000011.9:g.2648890GT[3], NC_000011.9:g.2648890GT[4], NC_000011.9:g.2648890GT[6], NG_016178.2:g.77331CA[3], NG_016178.2:g.77331CA[4], NG_016178.2:g.77331CA[6], NR_002728.3:n.72331CA[3], NR_002728.3:n.72331CA[4], NR_002728.3:n.72331CA[6], NG_008935.1:g.187670GT[3], NG_008935.1:g.187670GT[4], NG_008935.1:g.187670GT[6]

Select item 14911657848.

rs1491165784 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 11:2674832 (GRCh38)
11:2696062 (GRCh37)
Canonical SPDI:: NC_000011.10:2674831:TA:
Gene:: KCNQ1 (Varview), KCNQ1OT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.006077/98 (ALFA)
-=0.005226/3 (NorthernSweden)
-=0.008066/943 (GnomAD)
-=0.05707/953 (TOMMO)
HGVS:: NC_000011.10:g.2674832_2674833del, NC_000011.9:g.2696062_2696063del, NG_016178.2:g.30166_30167del, NR_002728.3:n.25166_25167del, NG_008935.1:g.234842_234843del

Select item 14911455859.

rs1491145585 has merged into rs34011245 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:2648061 (GRCh38)
11:2669291 (GRCh37)
Canonical SPDI:: NC_000011.10:2648051:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:2648051:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:2648051:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:2648051:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:2648051:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:2648051:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:2648051:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:2648051:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:2648051:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KCNQ1 (Varview), KCNQ1OT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.2648061_2648068del, NC_000011.10:g.2648065_2648068del, NC_000011.10:g.2648066_2648068del, NC_000011.10:g.2648067_2648068del, NC_000011.10:g.2648068del, NC_000011.10:g.2648068dup, NC_000011.10:g.2648067_2648068dup, NC_000011.10:g.2648066_2648068dup, NC_000011.10:g.2648059_2648068dup, NC_000011.9:g.2669291_2669298del, NC_000011.9:g.2669295_2669298del, NC_000011.9:g.2669296_2669298del, NC_000011.9:g.2669297_2669298del, NC_000011.9:g.2669298del, NC_000011.9:g.2669298dup, NC_000011.9:g.2669297_2669298dup, NC_000011.9:g.2669296_2669298dup, NC_000011.9:g.2669289_2669298dup, NG_016178.2:g.56940_56947del, NG_016178.2:g.56944_56947del, NG_016178.2:g.56945_56947del, NG_016178.2:g.56946_56947del, NG_016178.2:g.56947del, NG_016178.2:g.56947dup, NG_016178.2:g.56946_56947dup, NG_016178.2:g.56945_56947dup, NG_016178.2:g.56938_56947dup, NR_002728.3:n.51940_51947del, NR_002728.3:n.51944_51947del, NR_002728.3:n.51945_51947del, NR_002728.3:n.51946_51947del, NR_002728.3:n.51947del, NR_002728.3:n.51947dup, NR_002728.3:n.51946_51947dup, NR_002728.3:n.51945_51947dup, NR_002728.3:n.51938_51947dup, NG_008935.1:g.208071_208078del, NG_008935.1:g.208075_208078del, NG_008935.1:g.208076_208078del, NG_008935.1:g.208077_208078del, NG_008935.1:g.208078del, NG_008935.1:g.208078dup, NG_008935.1:g.208077_208078dup, NG_008935.1:g.208076_208078dup, NG_008935.1:g.208069_208078dup

Select item 149109331810.

rs1491093318 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 11:2664762 (GRCh38)
11:2685992 (GRCh37)
Canonical SPDI:: NC_000011.10:2664761:AG:
Gene:: KCNQ1 (Varview), KCNQ1OT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000043/6 (GnomAD)
-=0.000057/15 (TOPMED)
HGVS:: NC_000011.10:g.2664762_2664763del, NC_000011.9:g.2685992_2685993del, NG_016178.2:g.40236_40237del, NR_002728.3:n.35236_35237del, NG_008935.1:g.224772_224773del

Select item 149099849811.

rs1490998498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2699653 (GRCh38)
11:2720883 (GRCh37)
Canonical SPDI:: NC_000011.10:2699652:G:A
Gene:: KCNQ1 (Varview), KCNQ1OT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.2699653G>A, NC_000011.9:g.2720883G>A, NG_016178.2:g.5346C>T, NR_002728.3:n.346C>T, NG_008935.1:g.259663G>A

Select item 149099702812.

rs1490997028 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACTT>- [Show Flanks]
Chromosome:: 11:2619142 (GRCh38)
11:2640372 (GRCh37)
Canonical SPDI:: NC_000011.10:2619138:CTTACTT:CTT
Gene:: KCNQ1 (Varview), KCNQ1OT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTT=0./0 (ALFA)
-=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.2619142_2619145del, NC_000011.9:g.2640372_2640375del, NG_016178.2:g.85857_85860del, NR_002728.3:n.80857_80860del, NG_008935.1:g.179152_179155del

Select item 149097599813.

rs1490975998 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:2671717 (GRCh38)
11:2692948 (GRCh37)
Canonical SPDI:: NC_000011.10:2671717:A:AA
Gene:: KCNQ1 (Varview), KCNQ1OT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000011.10:g.2671718dup, NC_000011.9:g.2692948dup, NG_016178.2:g.33281dup, NR_002728.3:n.28281dup, NG_008935.1:g.231728dup

Select item 149094460014.

rs1490944600 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:2670701 (GRCh38)
11:2691931 (GRCh37)
Canonical SPDI:: NC_000011.10:2670700:T:G
Gene:: KCNQ1 (Varview), KCNQ1OT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.2670701T>G, NC_000011.9:g.2691931T>G, NG_016178.2:g.34298A>C, NR_002728.3:n.29298A>C, NG_008935.1:g.230711T>G

Select item 149092156915.

rs1490921569 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:2688371 (GRCh38)
11:2709601 (GRCh37)
Canonical SPDI:: NC_000011.10:2688370:T:C
Gene:: KCNQ1 (Varview), KCNQ1OT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.2688371T>C, NC_000011.9:g.2709601T>C, NG_016178.2:g.16628A>G, NR_002728.3:n.11628A>G, NG_008935.1:g.248381T>C

Select item 149092079716.

rs1490920797 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2701399 (GRCh38)
11:2722629 (GRCh37)
Canonical SPDI:: NC_000011.10:2701398:C:T
Gene:: KCNQ1 (Varview), KCNQ1OT1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.2701399C>T, NC_000011.9:g.2722629C>T, NG_016178.2:g.3600G>A, NG_008935.1:g.261409C>T, NG_046092.1:g.1305C>T

Select item 149084423017.

rs1490844230 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2619985 (GRCh38)
11:2641215 (GRCh37)
Canonical SPDI:: NC_000011.10:2619984:C:T
Gene:: KCNQ1 (Varview), KCNQ1OT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.2619985C>T, NC_000011.9:g.2641215C>T, NG_016178.2:g.85014G>A, NR_002728.3:n.80014G>A, NG_008935.1:g.179995C>T

Select item 149078669318.

rs1490786693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:2661807 (GRCh38)
11:2683037 (GRCh37)
Canonical SPDI:: NC_000011.10:2661806:C:G,NC_000011.10:2661806:C:T
Gene:: KCNQ1 (Varview), KCNQ1OT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.2661807C>G, NC_000011.10:g.2661807C>T, NC_000011.9:g.2683037C>G, NC_000011.9:g.2683037C>T, NG_016178.2:g.43192G>C, NG_016178.2:g.43192G>A, NR_002728.3:n.38192G>C, NR_002728.3:n.38192G>A, NG_008935.1:g.221817C>G, NG_008935.1:g.221817C>T

Select item 149078344319.

rs1490783443 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:2648835 (GRCh38)
11:2670065 (GRCh37)
Canonical SPDI:: NC_000011.10:2648834:G:A,NC_000011.10:2648834:G:T
Gene:: KCNQ1 (Varview), KCNQ1OT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.2648835G>A, NC_000011.10:g.2648835G>T, NC_000011.9:g.2670065G>A, NC_000011.9:g.2670065G>T, NG_016178.2:g.56164C>T, NG_016178.2:g.56164C>A, NR_002728.3:n.51164C>T, NR_002728.3:n.51164C>A, NG_008935.1:g.208845G>A, NG_008935.1:g.208845G>T

Select item 149075042720.

rs1490750427 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2612022 (GRCh38)
11:2633252 (GRCh37)
Canonical SPDI:: NC_000011.10:2612021:C:T
Gene:: KCNQ1 (Varview), KCNQ1OT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000038/10 (TOPMED)
HGVS:: NC_000011.10:g.2612022C>T, NC_000011.9:g.2633252C>T, NG_016178.2:g.92977G>A, NR_002728.3:n.87977G>A, NG_008935.1:g.172032C>T

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