SNP Links for Gene (Select 100874083) - SNP

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Select item 14914921131.

rs1491492113 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA,AAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 3:156218813 (GRCh38)
3:155936602 (GRCh37)
Canonical SPDI:: NC_000003.12:156218810:AAAA:AA,NC_000003.12:156218810:AAAA:AAAAA,NC_000003.12:156218810:AAAA:AAAAAAA,NC_000003.12:156218810:AAAA:AAAAAAAAAA
Gene:: KCNAB1 (Varview), KCNAB1-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0.00031/5 (ALFA)
-=0.00011/3 (TOMMO)
HGVS:: NC_000003.12:g.156218813_156218814del, NC_000003.12:g.156218814dup, NC_000003.12:g.156218812_156218814dup, NC_000003.12:g.156218814_156218815insAAAAAA, NC_000003.11:g.155936602_155936603del, NC_000003.11:g.155936603dup, NC_000003.11:g.155936601_155936603dup, NC_000003.11:g.155936603_155936604insAAAAAA, NG_042292.1:g.103266_103267del, NG_042292.1:g.103267dup, NG_042292.1:g.103265_103267dup, NG_042292.1:g.103267_103268insAAAAAA

Select item 14913682502.

rs1491368250 [Homo sapiens]

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

Select item 14908422453.

rs1490842245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:156223973 (GRCh38)
3:155941762 (GRCh37)
Canonical SPDI:: NC_000003.12:156223972:C:G
Gene:: KCNAB1 (Varview), KCNAB1-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.156223973C>G, NC_000003.11:g.155941762C>G, NG_042292.1:g.108426C>G

Select item 14905647624.

rs1490564762 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:156226081 (GRCh38)
3:155943870 (GRCh37)
Canonical SPDI:: NC_000003.12:156226080:G:A
Gene:: KCNAB1 (Varview), KCNAB1-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.156226081G>A, NC_000003.11:g.155943870G>A, NG_042292.1:g.110534G>A

Select item 14905199755.

rs1490519975 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:156227201 (GRCh38)
3:155944990 (GRCh37)
Canonical SPDI:: NC_000003.12:156227200:C:T
Gene:: KCNAB1 (Varview), KCNAB1-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.156227201C>T, NC_000003.11:g.155944990C>T, NG_042292.1:g.111654C>T

Select item 14903590926.

rs1490359092 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAG>- [Show Flanks]
Chromosome:: 3:156224636 (GRCh38)
3:155942425 (GRCh37)
Canonical SPDI:: NC_000003.12:156224633:AGAAAG:AG
Gene:: KCNAB1 (Varview), KCNAB1-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0.000054/1 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.156224636_156224639del, NC_000003.11:g.155942425_155942428del, NG_042292.1:g.109089_109092del

Select item 14902399757.

rs1490239975 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:156225168 (GRCh38)
3:155942958 (GRCh37)
Canonical SPDI:: NC_000003.12:156225168:AAA:AAAA
Gene:: KCNAB1 (Varview), KCNAB1-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.156225171dup, NC_000003.11:g.155942960dup, NG_042292.1:g.109624dup

Select item 14901939038.

rs1490193903 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:156226217 (GRCh38)
3:155944006 (GRCh37)
Canonical SPDI:: NC_000003.12:156226216:G:T
Gene:: KCNAB1 (Varview), KCNAB1-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000003.12:g.156226217G>T, NC_000003.11:g.155944006G>T, NG_042292.1:g.110670G>T

Select item 14900055579.

rs1490005557 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:156218530 (GRCh38)
3:155936319 (GRCh37)
Canonical SPDI:: NC_000003.12:156218529:A:T
Gene:: KCNAB1 (Varview), KCNAB1-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.156218530A>T, NC_000003.11:g.155936319A>T, NG_042292.1:g.102983A>T

Select item 148999139010.

rs1489991390 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:156219255 (GRCh38)
3:155937044 (GRCh37)
Canonical SPDI:: NC_000003.12:156219254:T:C
Gene:: KCNAB1 (Varview), KCNAB1-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.156219255T>C, NC_000003.11:g.155937044T>C, NG_042292.1:g.103708T>C

Select item 148973531111.

rs1489735311 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 3:156219698 (GRCh38)
3:155937487 (GRCh37)
Canonical SPDI:: NC_000003.12:156219697:A:
Gene:: KCNAB1 (Varview), KCNAB1-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00018/3 (TOMMO)
-=0.00203/33 (GnomAD)
HGVS:: NC_000003.12:g.156219698del, NC_000003.11:g.155937487del, NG_042292.1:g.104151del

Select item 148970350512.

rs1489703505 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:156225587 (GRCh38)
3:155943376 (GRCh37)
Canonical SPDI:: NC_000003.12:156225586:A:G
Gene:: KCNAB1 (Varview), KCNAB1-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.156225587A>G, NC_000003.11:g.155943376A>G, NG_042292.1:g.110040A>G

Select item 148961214013.

rs1489612140 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:156226632 (GRCh38)
3:155944421 (GRCh37)
Canonical SPDI:: NC_000003.12:156226631:A:G
Gene:: KCNAB1 (Varview), KCNAB1-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.156226632A>G, NC_000003.11:g.155944421A>G, NG_042292.1:g.111085A>G

Select item 148932225314.

rs1489322253 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:156220604 (GRCh38)
3:155938393 (GRCh37)
Canonical SPDI:: NC_000003.12:156220603:T:C
Gene:: KCNAB1 (Varview), KCNAB1-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.156220604T>C, NC_000003.11:g.155938393T>C, NG_042292.1:g.105057T>C

Select item 148902103415.

rs1489021034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:156224203 (GRCh38)
3:155941992 (GRCh37)
Canonical SPDI:: NC_000003.12:156224202:C:T
Gene:: KCNAB1 (Varview), KCNAB1-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.156224203C>T, NC_000003.11:g.155941992C>T, NG_042292.1:g.108656C>T

Select item 148858472416.

rs1488584724 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:156217976 (GRCh38)
3:155935765 (GRCh37)
Canonical SPDI:: NC_000003.12:156217975:C:A
Gene:: KCNAB1 (Varview), KCNAB1-AS2 (Varview)
Functional Consequence:: intron_variant,splice_donor_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.156217976C>A, NC_000003.11:g.155935765C>A, NG_042292.1:g.102429C>A

Select item 148836468817.

rs1488364688 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:156223517 (GRCh38)
3:155941306 (GRCh37)
Canonical SPDI:: NC_000003.12:156223516:A:G
Gene:: KCNAB1 (Varview), KCNAB1-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.156223517A>G, NC_000003.11:g.155941306A>G, NG_042292.1:g.107970A>G

Select item 148833517918.

rs1488335179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:156224244 (GRCh38)
3:155942033 (GRCh37)
Canonical SPDI:: NC_000003.12:156224243:C:T
Gene:: KCNAB1 (Varview), KCNAB1-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.156224244C>T, NC_000003.11:g.155942033C>T, NG_042292.1:g.108697C>T

Select item 148807623319.

rs1488076233 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:156215738 (GRCh38)
3:155933527 (GRCh37)
Canonical SPDI:: NC_000003.12:156215737:C:A,NC_000003.12:156215737:C:T
Gene:: KCNAB1 (Varview), KCNAB1-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_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_000003.12:g.156215738C>A, NC_000003.12:g.156215738C>T, NC_000003.11:g.155933527C>A, NC_000003.11:g.155933527C>T, NG_042292.1:g.100191C>A, NG_042292.1:g.100191C>T, NR_046617.1:n.360G>T, NR_046617.1:n.360G>A

Select item 148796948020.

rs1487969480 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:156216184 (GRCh38)
3:155933973 (GRCh37)
Canonical SPDI:: NC_000003.12:156216183:G:C
Gene:: KCNAB1 (Varview), KCNAB1-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.156216184G>C, NC_000003.11:g.155933973G>C, NG_042292.1:g.100637G>C

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