SNP Links for Gene (Select 55539) - SNP

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Select item 14910455061.

rs1491045506 has merged into rs57776813 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:2872335 (GRCh38)
11:2893565 (GRCh37)
Canonical SPDI:: NC_000011.10:2872321:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:2872321:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:2872321:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:2872321:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:2872321:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:2872321:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:2872321:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:2872321:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:2872321:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:2872321:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:2872321:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:2872321:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:2872321:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:2872321:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:2872321:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:2872321:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:2872321:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:2872321:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:2872321:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:2872321:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KCNQ1DN (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.2872335_2872344del, NC_000011.10:g.2872336_2872344del, NC_000011.10:g.2872338_2872344del, NC_000011.10:g.2872339_2872344del, NC_000011.10:g.2872340_2872344del, NC_000011.10:g.2872341_2872344del, NC_000011.10:g.2872342_2872344del, NC_000011.10:g.2872343_2872344del, NC_000011.10:g.2872344del, NC_000011.10:g.2872344dup, NC_000011.10:g.2872343_2872344dup, NC_000011.10:g.2872342_2872344dup, NC_000011.10:g.2872341_2872344dup, NC_000011.10:g.2872340_2872344dup, NC_000011.10:g.2872339_2872344dup, NC_000011.10:g.2872338_2872344dup, NC_000011.10:g.2872337_2872344dup, NC_000011.10:g.2872336_2872344dup, NC_000011.10:g.2872332_2872344dup, NC_000011.10:g.2872344_2872345insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.2893565_2893574del, NC_000011.9:g.2893566_2893574del, NC_000011.9:g.2893568_2893574del, NC_000011.9:g.2893569_2893574del, NC_000011.9:g.2893570_2893574del, NC_000011.9:g.2893571_2893574del, NC_000011.9:g.2893572_2893574del, NC_000011.9:g.2893573_2893574del, NC_000011.9:g.2893574del, NC_000011.9:g.2893574dup, NC_000011.9:g.2893573_2893574dup, NC_000011.9:g.2893572_2893574dup, NC_000011.9:g.2893571_2893574dup, NC_000011.9:g.2893570_2893574dup, NC_000011.9:g.2893569_2893574dup, NC_000011.9:g.2893568_2893574dup, NC_000011.9:g.2893567_2893574dup, NC_000011.9:g.2893566_2893574dup, NC_000011.9:g.2893562_2893574dup, NC_000011.9:g.2893574_2893575insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187585.1:g.104508_104517del, NT_187585.1:g.104509_104517del, NT_187585.1:g.104511_104517del, NT_187585.1:g.104512_104517del, NT_187585.1:g.104513_104517del, NT_187585.1:g.104514_104517del, NT_187585.1:g.104515_104517del, NT_187585.1:g.104516_104517del, NT_187585.1:g.104517del, NT_187585.1:g.104517dup, NT_187585.1:g.104516_104517dup, NT_187585.1:g.104515_104517dup, NT_187585.1:g.104514_104517dup, NT_187585.1:g.104513_104517dup, NT_187585.1:g.104512_104517dup, NT_187585.1:g.104511_104517dup, NT_187585.1:g.104510_104517dup, NT_187585.1:g.104509_104517dup, NT_187585.1:g.104505_104517dup, NT_187585.1:g.104517_104518insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14902742222.

rs1490274222 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:2869622 (GRCh38)
11:2890852 (GRCh37)
Canonical SPDI:: NC_000011.10:2869621:C:A,NC_000011.10:2869621:C:T
Gene:: KCNQ1DN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.2869622C>A, NC_000011.10:g.2869622C>T, NC_000011.9:g.2890852C>A, NC_000011.9:g.2890852C>T, NT_187585.1:g.101793C>A, NT_187585.1:g.101793C>T

Select item 14897593173.

rs1489759317 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:2868551 (GRCh38)
11:2889781 (GRCh37)
Canonical SPDI:: NC_000011.10:2868550:T:C
Gene:: KCNQ1DN (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)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.2868551T>C, NC_000011.9:g.2889781T>C, NG_066892.1:g.1496T>C, NT_187585.1:g.100722T>C

Select item 14891564944.

rs1489156494 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2869838 (GRCh38)
11:2891068 (GRCh37)
Canonical SPDI:: NC_000011.10:2869837:G:A
Gene:: KCNQ1DN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.2869838G>A, NC_000011.9:g.2891068G>A, NT_187585.1:g.102009G>A

Select item 14871942185.

rs1487194218 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 11:2871730 (GRCh38)
11:2892960 (GRCh37)
Canonical SPDI:: NC_000011.10:2871729:CCC:CC
Gene:: KCNQ1DN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.2871732del, NC_000011.9:g.2892962del, NT_187585.1:g.103905del

Select item 14869536246.

rs1486953624 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2871970 (GRCh38)
11:2893200 (GRCh37)
Canonical SPDI:: NC_000011.10:2871969:G:A
Gene:: KCNQ1DN (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.2871970G>A, NC_000011.9:g.2893200G>A, NT_187585.1:g.104143G>A, NM_018722.2:c.*87G>A, NR_024627.1:n.958G>A, NM_018722.1:c.*87G>A

Select item 14863076417.

rs1486307641 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:2871132 (GRCh38)
11:2892362 (GRCh37)
Canonical SPDI:: NC_000011.10:2871131:C:G
Gene:: KCNQ1DN (Varview)
Functional Consequence:: intron_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_000011.10:g.2871132C>G, NC_000011.9:g.2892362C>G, NT_187585.1:g.103305C>G

Select item 14859736408.

rs1485973640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2871613 (GRCh38)
11:2892843 (GRCh37)
Canonical SPDI:: NC_000011.10:2871612:C:T
Gene:: KCNQ1DN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.2871613C>T, NC_000011.9:g.2892843C>T, NT_187585.1:g.103786C>T

Select item 14857458209.

rs1485745820 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 11:2868657 (GRCh38)
11:2889887 (GRCh37)
Canonical SPDI:: NC_000011.10:2868656:G:A,NC_000011.10:2868656:G:C,NC_000011.10:2868656:G:T
Gene:: KCNQ1DN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000121/32 (TOPMED)
A=0.000132/16 (GnomAD)
C=0.001255/21 (TOMMO)
C=0.009873/14 (Korea1K)
HGVS:: NC_000011.10:g.2868657G>A, NC_000011.10:g.2868657G>C, NC_000011.10:g.2868657G>T, NC_000011.9:g.2889887G>A, NC_000011.9:g.2889887G>C, NC_000011.9:g.2889887G>T, NG_066892.1:g.1602G>A, NG_066892.1:g.1602G>C, NG_066892.1:g.1602G>T, NT_187585.1:g.100828G>A, NT_187585.1:g.100828G>C, NT_187585.1:g.100828G>T

Select item 148553737810.

rs1485537378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2869441 (GRCh38)
11:2890671 (GRCh37)
Canonical SPDI:: NC_000011.10:2869440:G:A
Gene:: KCNQ1DN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000011.10:g.2869441G>A, NC_000011.9:g.2890671G>A, NT_187585.1:g.101612G>A

Select item 148538417611.

rs1485384176 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:2868569 (GRCh38)
11:2889799 (GRCh37)
Canonical SPDI:: NC_000011.10:2868568:C:A
Gene:: KCNQ1DN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.2868569C>A, NC_000011.9:g.2889799C>A, NG_066892.1:g.1514C>A, NT_187585.1:g.100740C>A

Select item 148524389612.

rs1485243896 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2871546 (GRCh38)
11:2892776 (GRCh37)
Canonical SPDI:: NC_000011.10:2871545:G:A
Gene:: KCNQ1DN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000011.10:g.2871546G>A, NC_000011.9:g.2892776G>A, NT_187585.1:g.103719G>A

Select item 148435624213.

rs1484356242 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:2870234 (GRCh38)
11:2891464 (GRCh37)
Canonical SPDI:: NC_000011.10:2870233:T:G
Gene:: KCNQ1DN (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.2870234T>G, NC_000011.9:g.2891464T>G, NT_187585.1:g.102405T>G, NM_018722.2:c.-463T>G, NR_024627.1:n.202T>G, NM_018722.1:c.-463T>G

Select item 148395507614.

rs1483955076 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 11:2871204 (GRCh38)
11:2892434 (GRCh37)
Canonical SPDI:: NC_000011.10:2871201:AGAG:AG
Gene:: KCNQ1DN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.000071/1 (ALFA)
-=0.000057/8 (GnomAD)
-=0.00006/16 (TOPMED)
HGVS:: NC_000011.10:g.2871202AG[1], NC_000011.9:g.2892432AG[1], NT_187585.1:g.103375AG[1]

Select item 148388587215.

rs1483885872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2869962 (GRCh38)
11:2891192 (GRCh37)
Canonical SPDI:: NC_000011.10:2869961:G:A
Gene:: KCNQ1DN (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.2869962G>A, NC_000011.9:g.2891192G>A, NT_187585.1:g.102133G>A

Select item 148381307116.

rs1483813071 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:2869226 (GRCh38)
11:2890456 (GRCh37)
Canonical SPDI:: NC_000011.10:2869225:A:G
Gene:: KCNQ1DN (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.2869226A>G, NC_000011.9:g.2890456A>G, NT_187585.1:g.101397A>G

Select item 148225094117.

rs1482250941 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:2870398 (GRCh38)
11:2891628 (GRCh37)
Canonical SPDI:: NC_000011.10:2870397:T:A
Gene:: KCNQ1DN (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.2870398T>A, NC_000011.9:g.2891628T>A, NT_187585.1:g.102571T>A, NM_018722.2:c.-299T>A, NR_024627.1:n.366T>A, NM_018722.1:c.-299T>A

Select item 148198368118.

rs1481983681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:2870985 (GRCh38)
11:2892215 (GRCh37)
Canonical SPDI:: NC_000011.10:2870984:C:G
Gene:: KCNQ1DN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.2870985C>G, NC_000011.9:g.2892215C>G, NT_187585.1:g.103158C>G

Select item 148181733919.

rs1481817339 [Homo sapiens]

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

Select item 148157699320.

rs1481576993 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 11:2870877 (GRCh38)
11:2892107 (GRCh37)
Canonical SPDI:: NC_000011.10:2870876:G:
Gene:: KCNQ1DN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.2870877del, NC_000011.9:g.2892107del, NT_187585.1:g.103050del

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