SNP Links for Gene (Select 3749) - SNP

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Select item 14915661381.

rs1491566138 has merged into rs55839432 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 1:110281575 (GRCh38)
1:110824197 (GRCh37)
Canonical SPDI:: NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: KCNC4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACA=0./0 (ALFA)
AC=0.2069/1036 (1000Genomes)
HGVS:: NC_000001.11:g.110281557CA[9], NC_000001.11:g.110281557CA[10], NC_000001.11:g.110281557CA[11], NC_000001.11:g.110281557CA[12], NC_000001.11:g.110281557CA[13], NC_000001.11:g.110281557CA[14], NC_000001.11:g.110281557CA[15], NC_000001.11:g.110281557CA[16], NC_000001.11:g.110281557CA[18], NC_000001.11:g.110281557CA[19], NC_000001.11:g.110281557CA[20], NC_000001.11:g.110281557CA[21], NC_000001.11:g.110281557CA[22], NC_000001.11:g.110281557CA[23], NC_000001.11:g.110281557CA[24], NC_000001.11:g.110281557CA[25], NC_000001.11:g.110281557CA[26], NC_000001.11:g.110281557CA[27], NC_000001.11:g.110281557CA[28], NC_000001.11:g.110281557CA[29], NC_000001.11:g.110281557CA[30], NC_000001.11:g.110281557CA[31], NC_000001.11:g.110281557CA[32], NC_000001.10:g.110824179CA[9], NC_000001.10:g.110824179CA[10], NC_000001.10:g.110824179CA[11], NC_000001.10:g.110824179CA[12], NC_000001.10:g.110824179CA[13], NC_000001.10:g.110824179CA[14], NC_000001.10:g.110824179CA[15], NC_000001.10:g.110824179CA[16], NC_000001.10:g.110824179CA[18], NC_000001.10:g.110824179CA[19], NC_000001.10:g.110824179CA[20], NC_000001.10:g.110824179CA[21], NC_000001.10:g.110824179CA[22], NC_000001.10:g.110824179CA[23], NC_000001.10:g.110824179CA[24], NC_000001.10:g.110824179CA[25], NC_000001.10:g.110824179CA[26], NC_000001.10:g.110824179CA[27], NC_000001.10:g.110824179CA[28], NC_000001.10:g.110824179CA[29], NC_000001.10:g.110824179CA[30], NC_000001.10:g.110824179CA[31], NC_000001.10:g.110824179CA[32]

Select item 14914729032.

rs1491472903 has merged into rs55839432 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 1:110281575 (GRCh38)
1:110824197 (GRCh37)
Canonical SPDI:: NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:110281555:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: KCNC4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACA=0./0 (ALFA)
AC=0.2069/1036 (1000Genomes)
HGVS:: NC_000001.11:g.110281557CA[9], NC_000001.11:g.110281557CA[10], NC_000001.11:g.110281557CA[11], NC_000001.11:g.110281557CA[12], NC_000001.11:g.110281557CA[13], NC_000001.11:g.110281557CA[14], NC_000001.11:g.110281557CA[15], NC_000001.11:g.110281557CA[16], NC_000001.11:g.110281557CA[18], NC_000001.11:g.110281557CA[19], NC_000001.11:g.110281557CA[20], NC_000001.11:g.110281557CA[21], NC_000001.11:g.110281557CA[22], NC_000001.11:g.110281557CA[23], NC_000001.11:g.110281557CA[24], NC_000001.11:g.110281557CA[25], NC_000001.11:g.110281557CA[26], NC_000001.11:g.110281557CA[27], NC_000001.11:g.110281557CA[28], NC_000001.11:g.110281557CA[29], NC_000001.11:g.110281557CA[30], NC_000001.11:g.110281557CA[31], NC_000001.11:g.110281557CA[32], NC_000001.10:g.110824179CA[9], NC_000001.10:g.110824179CA[10], NC_000001.10:g.110824179CA[11], NC_000001.10:g.110824179CA[12], NC_000001.10:g.110824179CA[13], NC_000001.10:g.110824179CA[14], NC_000001.10:g.110824179CA[15], NC_000001.10:g.110824179CA[16], NC_000001.10:g.110824179CA[18], NC_000001.10:g.110824179CA[19], NC_000001.10:g.110824179CA[20], NC_000001.10:g.110824179CA[21], NC_000001.10:g.110824179CA[22], NC_000001.10:g.110824179CA[23], NC_000001.10:g.110824179CA[24], NC_000001.10:g.110824179CA[25], NC_000001.10:g.110824179CA[26], NC_000001.10:g.110824179CA[27], NC_000001.10:g.110824179CA[28], NC_000001.10:g.110824179CA[29], NC_000001.10:g.110824179CA[30], NC_000001.10:g.110824179CA[31], NC_000001.10:g.110824179CA[32]

Select item 14914537603.

rs1491453760 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 1:110242261 (GRCh38)
1:110784884 (GRCh37)
Canonical SPDI:: NC_000001.11:110242261:G:GAG
Gene:: KCNC4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAG=0./0 (ALFA)
GA=0.000008/2 (TOPMED)
GA=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.110242262_110242263insAG, NC_000001.10:g.110784884_110784885insAG, NM_004978.5:c.*9953_*9954insAG

Select item 14914490034.

rs1491449003 has merged into rs5777007 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG,GGGGGGG [Show Flanks]
Chromosome:: 1:110242260 (GRCh38)
1:110784882 (GRCh37)
Canonical SPDI:: NC_000001.11:110242254:GGGGGGGG:GGGGG,NC_000001.11:110242254:GGGGGGGG:GGGGGG,NC_000001.11:110242254:GGGGGGGG:GGGGGGG,NC_000001.11:110242254:GGGGGGGG:GGGGGGGGG,NC_000001.11:110242254:GGGGGGGG:GGGGGGGGGG,NC_000001.11:110242254:GGGGGGGG:GGGGGGGGGGG,NC_000001.11:110242254:GGGGGGGG:GGGGGGGGGGGG
Gene:: KCNC4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
G=0.010057/32 (1000Genomes)
G=0.158259/709 (Estonian)
G=0.225/9 (GENOME_DK)
G=0.228333/137 (NorthernSweden)
G=0.229113/883 (ALSPAC)
G=0.231931/860 (TWINSUK)
G=0.34109/90283 (TOPMED)
HGVS:: NC_000001.11:g.110242260_110242262del, NC_000001.11:g.110242261_110242262del, NC_000001.11:g.110242262del, NC_000001.11:g.110242262dup, NC_000001.11:g.110242261_110242262dup, NC_000001.11:g.110242260_110242262dup, NC_000001.11:g.110242259_110242262dup, NC_000001.10:g.110784882_110784884del, NC_000001.10:g.110784883_110784884del, NC_000001.10:g.110784884del, NC_000001.10:g.110784884dup, NC_000001.10:g.110784883_110784884dup, NC_000001.10:g.110784882_110784884dup, NC_000001.10:g.110784881_110784884dup, NM_004978.5:c.*9951_*9953del, NM_004978.5:c.*9952_*9953del, NM_004978.5:c.*9953del, NM_004978.5:c.*9953dup, NM_004978.5:c.*9952_*9953dup, NM_004978.5:c.*9951_*9953dup, NM_004978.5:c.*9950_*9953dup

Select item 14913134025.

rs1491313402 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:110268611 (GRCh38)
1:110811234 (GRCh37)
Canonical SPDI:: NC_000001.11:110268611::C
Gene:: KCNC4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00002/1 (GnomAD)
HGVS:: NC_000001.11:g.110268611_110268612insC, NC_000001.10:g.110811233_110811234insC

Select item 14912923446.

rs1491292344 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCAC [Show Flanks]
Chromosome:: 1:110281556 (GRCh38)
1:110824179 (GRCh37)
Canonical SPDI:: NC_000001.11:110281556:CAC:CACGCAC
Gene:: KCNC4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CACGCAC=0.00008/1 (ALFA)
CACG=0.00017/5 (GnomAD)
HGVS:: NC_000001.11:g.110281559_110281560insGCAC, NC_000001.10:g.110824181_110824182insGCAC

Select item 14912174297.

rs1491217429 has merged into rs1177241176 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:110268616 (GRCh38)
1:110811238 (GRCh37)
Canonical SPDI:: NC_000001.11:110268610:AAAAAAAAAAAAAAAAA:AAAAA,NC_000001.11:110268610:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:110268610:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:110268610:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:110268610:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:110268610:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:110268610:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:110268610:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:110268610:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:110268610:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:110268610:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:110268610:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:110268610:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:110268610:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:110268610:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:110268610:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:110268610:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:110268610:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:110268610:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:110268610:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:110268610:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:110268610:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:110268610:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KCNC4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.000215/57 (TOPMED)
HGVS:: NC_000001.11:g.110268616_110268627del, NC_000001.11:g.110268620_110268627del, NC_000001.11:g.110268621_110268627del, NC_000001.11:g.110268622_110268627del, NC_000001.11:g.110268623_110268627del, NC_000001.11:g.110268624_110268627del, NC_000001.11:g.110268625_110268627del, NC_000001.11:g.110268626_110268627del, NC_000001.11:g.110268627del, NC_000001.11:g.110268627dup, NC_000001.11:g.110268626_110268627dup, NC_000001.11:g.110268625_110268627dup, NC_000001.11:g.110268624_110268627dup, NC_000001.11:g.110268623_110268627dup, NC_000001.11:g.110268622_110268627dup, NC_000001.11:g.110268621_110268627dup, NC_000001.11:g.110268620_110268627dup, NC_000001.11:g.110268619_110268627dup, NC_000001.11:g.110268618_110268627dup, NC_000001.11:g.110268617_110268627dup, NC_000001.11:g.110268616_110268627dup, NC_000001.11:g.110268627_110268628insAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.110268627_110268628insAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.110811238_110811249del, NC_000001.10:g.110811242_110811249del, NC_000001.10:g.110811243_110811249del, NC_000001.10:g.110811244_110811249del, NC_000001.10:g.110811245_110811249del, NC_000001.10:g.110811246_110811249del, NC_000001.10:g.110811247_110811249del, NC_000001.10:g.110811248_110811249del, NC_000001.10:g.110811249del, NC_000001.10:g.110811249dup, NC_000001.10:g.110811248_110811249dup, NC_000001.10:g.110811247_110811249dup, NC_000001.10:g.110811246_110811249dup, NC_000001.10:g.110811245_110811249dup, NC_000001.10:g.110811244_110811249dup, NC_000001.10:g.110811243_110811249dup, NC_000001.10:g.110811242_110811249dup, NC_000001.10:g.110811241_110811249dup, NC_000001.10:g.110811240_110811249dup, NC_000001.10:g.110811239_110811249dup, NC_000001.10:g.110811238_110811249dup, NC_000001.10:g.110811249_110811250insAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.110811249_110811250insAAAAAAAAAAAAAAAAAAAAA

Select item 14911627868.

rs1491162786 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG,TG [Show Flanks]
Chromosome:: 1:110254091 (GRCh38)
1:110796714 (GRCh37)
Canonical SPDI:: NC_000001.11:110254091:G:GCG,NC_000001.11:110254091:G:GTG
Gene:: KCNC4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GTG=0./0 (ALFA)
GC=0.00002/1 (GnomAD)
HGVS:: NC_000001.11:g.110254092_110254093insCG, NC_000001.11:g.110254092_110254093insTG, NC_000001.10:g.110796714_110796715insCG, NC_000001.10:g.110796714_110796715insTG

Select item 14911604409.

rs1491160440 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:110281552 (GRCh38)
1:110824175 (GRCh37)
Canonical SPDI:: NC_000001.11:110281552::C
Gene:: KCNC4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000001.11:g.110281552_110281553insC, NC_000001.10:g.110824174_110824175insC

Select item 149104423510.

rs1491044235 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 1:110254102 (GRCh38)
1:110796724 (GRCh37)
Canonical SPDI:: NC_000001.11:110254101:GG:G,NC_000001.11:110254101:GG:GGG
Gene:: KCNC4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
-=0.000049/13 (TOPMED)
HGVS:: NC_000001.11:g.110254103del, NC_000001.11:g.110254103dup, NC_000001.10:g.110796725del, NC_000001.10:g.110796725dup

Select item 149099918611.

rs1490999186 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 1:110232653 (GRCh38)
1:110775275 (GRCh37)
Canonical SPDI:: NC_000001.11:110232652:G:A,NC_000001.11:110232652:G:C,NC_000001.11:110232652:G:T
Gene:: KCNC4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.110232653G>A, NC_000001.11:g.110232653G>C, NC_000001.11:g.110232653G>T, NC_000001.10:g.110775275G>A, NC_000001.10:g.110775275G>C, NC_000001.10:g.110775275G>T, NM_004978.6:c.*344G>A, NM_004978.6:c.*344G>C, NM_004978.6:c.*344G>T, NM_004978.5:c.*344G>A, NM_004978.5:c.*344G>C, NM_004978.5:c.*344G>T, NM_004978.4:c.*344G>A, NM_004978.4:c.*344G>C, NM_004978.4:c.*344G>T, NM_001377331.1:c.*103G>A, NM_001377331.1:c.*103G>C, NM_001377331.1:c.*103G>T

Select item 149097417212.

rs1490974172 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:110231465 (GRCh38)
1:110774087 (GRCh37)
Canonical SPDI:: NC_000001.11:110231464:G:T
Gene:: KCNC4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_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_000001.11:g.110231465G>T, NC_000001.10:g.110774087G>T

Select item 149093472213.

rs1490934722 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:110261844 (GRCh38)
1:110804466 (GRCh37)
Canonical SPDI:: NC_000001.11:110261843:T:A,NC_000001.11:110261843:T:C
Gene:: KCNC4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.110261844T>A, NC_000001.11:g.110261844T>C, NC_000001.10:g.110804466T>A, NC_000001.10:g.110804466T>C

Select item 149092244714.

rs1490922447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:110248064 (GRCh38)
1:110790686 (GRCh37)
Canonical SPDI:: NC_000001.11:110248063:C:T
Gene:: KCNC4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0./0 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.110248064C>T, NC_000001.10:g.110790686C>T, NM_004978.5:c.*15755C>T, XM_011541401.4:c.*805C>T, XM_047419680.1:c.*777C>T

Select item 149076625915.

rs1490766259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:110264942 (GRCh38)
1:110807564 (GRCh37)
Canonical SPDI:: NC_000001.11:110264941:C:T
Gene:: KCNC4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000001.11:g.110264942C>T, NC_000001.10:g.110807564C>T

Select item 149074232716.

rs1490742327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:110239476 (GRCh38)
1:110782098 (GRCh37)
Canonical SPDI:: NC_000001.11:110239475:C:T
Gene:: KCNC4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.110239476C>T, NC_000001.10:g.110782098C>T, NM_004978.5:c.*7167C>T

Select item 149068260317.

rs1490682603 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:110278661 (GRCh38)
1:110821283 (GRCh37)
Canonical SPDI:: NC_000001.11:110278660:A:G
Gene:: KCNC4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.110278661A>G, NC_000001.10:g.110821283A>G

Select item 149066381418.

rs1490663814 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:110255979 (GRCh38)
1:110798601 (GRCh37)
Canonical SPDI:: NC_000001.11:110255978:G:A
Gene:: KCNC4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.110255979G>A, NC_000001.10:g.110798601G>A

Select item 149051265019.

rs1490512650 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:110219511 (GRCh38)
1:110762133 (GRCh37)
Canonical SPDI:: NC_000001.11:110219510:T:G
Gene:: KCNC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.110219511T>G, NC_000001.10:g.110762133T>G

Select item 149051022020.

rs1490510220 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:110260750 (GRCh38)
1:110803372 (GRCh37)
Canonical SPDI:: NC_000001.11:110260749:G:A
Gene:: KCNC4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000001.11:g.110260750G>A, NC_000001.10:g.110803372G>A

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