SNP Links for Gene (Select 100874369) - SNP

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Select item 14905740611.

rs1490574061 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:2048918 (GRCh38)
12:2158084 (GRCh37)
Canonical SPDI:: NC_000012.12:2048917:A:G
Gene:: CACNA1C (Varview), CACNA1C-IT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000012.12:g.2048918A>G, NC_000012.11:g.2158084A>G, NG_008801.2:g.83133A>G, NW_018654718.1:g.391062A>G

Select item 14883308622.

rs1488330862 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:2049659 (GRCh38)
12:2158825 (GRCh37)
Canonical SPDI:: NC_000012.12:2049658:T:C
Gene:: CACNA1C (Varview), CACNA1C-IT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000012.12:g.2049659T>C, NC_000012.11:g.2158825T>C, NG_008801.2:g.83874T>C, NW_018654718.1:g.391803T>C

Select item 14880330573.

rs1488033057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:2046727 (GRCh38)
12:2155893 (GRCh37)
Canonical SPDI:: NC_000012.12:2046726:G:A
Gene:: CACNA1C (Varview), CACNA1C-IT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_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_000012.12:g.2046727G>A, NC_000012.11:g.2155893G>A, NG_008801.2:g.80942G>A, NW_018654718.1:g.388871G>A

Select item 14874287124.

rs1487428712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:2049645 (GRCh38)
12:2158811 (GRCh37)
Canonical SPDI:: NC_000012.12:2049644:G:A
Gene:: CACNA1C (Varview), CACNA1C-IT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_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_000012.12:g.2049645G>A, NC_000012.11:g.2158811G>A, NG_008801.2:g.83860G>A, NW_018654718.1:g.391789G>A

Select item 14866459815.

rs1486645981 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:2048551 (GRCh38)
12:2157717 (GRCh37)
Canonical SPDI:: NC_000012.12:2048550:C:T
Gene:: CACNA1C (Varview), CACNA1C-IT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.2048551C>T, NC_000012.11:g.2157717C>T, NG_008801.2:g.82766C>T, NW_018654718.1:g.390695C>T, NR_046768.1:n.200C>T

Select item 14857172496.

rs1485717249 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:2048920 (GRCh38)
12:2158086 (GRCh37)
Canonical SPDI:: NC_000012.12:2048919:T:A
Gene:: CACNA1C (Varview), CACNA1C-IT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.2048920T>A, NC_000012.11:g.2158086T>A, NG_008801.2:g.83135T>A, NW_018654718.1:g.391064T>A

Select item 14841997707.

rs1484199770 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:2046519 (GRCh38)
12:2155685 (GRCh37)
Canonical SPDI:: NC_000012.12:2046518:A:G
Gene:: CACNA1C (Varview), CACNA1C-IT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000198/3 (ALFA)
G=0.000014/2 (GnomAD)
G=0.00067/3 (Estonian)
HGVS:: NC_000012.12:g.2046519A>G, NC_000012.11:g.2155685A>G, NG_008801.2:g.80734A>G, NW_018654718.1:g.388663A>G

Select item 14833908538.

rs1483390853 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:2047529 (GRCh38)
12:2156695 (GRCh37)
Canonical SPDI:: NC_000012.12:2047528:A:G
Gene:: CACNA1C (Varview), CACNA1C-IT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_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_000012.12:g.2047529A>G, NC_000012.11:g.2156695A>G, NG_008801.2:g.81744A>G, NW_018654718.1:g.389673A>G

Select item 14813958319.

rs1481395831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:2047922 (GRCh38)
12:2157088 (GRCh37)
Canonical SPDI:: NC_000012.12:2047921:C:G
Gene:: CACNA1C (Varview), CACNA1C-IT2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.2047922C>G, NC_000012.11:g.2157088C>G, NG_008801.2:g.82137C>G, NW_018654718.1:g.390066C>G

Select item 148091884610.

rs1480918846 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTT>- [Show Flanks]
Chromosome:: 12:2049060 (GRCh38)
12:2158226 (GRCh37)
Canonical SPDI:: NC_000012.12:2049057:TTGTTT:TT
Gene:: CACNA1C (Varview), CACNA1C-IT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
-=0.000042/11 (TOPMED)
-=0.00005/7 (GnomAD)
HGVS:: NC_000012.12:g.2049060_2049063del, NC_000012.11:g.2158226_2158229del, NG_008801.2:g.83275_83278del, NW_018654718.1:g.391204_391207del

Select item 148023528911.

rs1480235289 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:2046856 (GRCh38)
12:2156022 (GRCh37)
Canonical SPDI:: NC_000012.12:2046855:C:G,NC_000012.12:2046855:C:T
Gene:: CACNA1C (Varview), CACNA1C-IT2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.2046856C>G, NC_000012.12:g.2046856C>T, NC_000012.11:g.2156022C>G, NC_000012.11:g.2156022C>T, NG_008801.2:g.81071C>G, NG_008801.2:g.81071C>T, NW_018654718.1:g.389000C>G, NW_018654718.1:g.389000C>T

Select item 147859937612.

rs1478599376 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:2047995 (GRCh38)
12:2157161 (GRCh37)
Canonical SPDI:: NC_000012.12:2047994:A:T
Gene:: CACNA1C (Varview), CACNA1C-IT2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000012.12:g.2047995A>T, NC_000012.11:g.2157161A>T, NG_008801.2:g.82210A>T, NW_018654718.1:g.390139A>T

Select item 147812647513.

rs1478126475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:2046821 (GRCh38)
12:2155987 (GRCh37)
Canonical SPDI:: NC_000012.12:2046820:G:T
Gene:: CACNA1C (Varview), CACNA1C-IT2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,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_000012.12:g.2046821G>T, NC_000012.11:g.2155987G>T, NG_008801.2:g.81036G>T, NW_018654718.1:g.388965G>T

Select item 147800346314.

rs1478003463 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:2048400 (GRCh38)
12:2157566 (GRCh37)
Canonical SPDI:: NC_000012.12:2048399:T:G
Gene:: CACNA1C (Varview), CACNA1C-IT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.2048400T>G, NC_000012.11:g.2157566T>G, NG_008801.2:g.82615T>G, NW_018654718.1:g.390544T>G, NR_046768.1:n.49T>G

Select item 147658456515.

rs1476584565 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:2048529 (GRCh38)
12:2157695 (GRCh37)
Canonical SPDI:: NC_000012.12:2048528:A:C
Gene:: CACNA1C (Varview), CACNA1C-IT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.2048529A>C, NC_000012.11:g.2157695A>C, NG_008801.2:g.82744A>C, NW_018654718.1:g.390673A>C, NR_046768.1:n.178A>C

Select item 147624546116.

rs1476245461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:2049759 (GRCh38)
12:2158925 (GRCh37)
Canonical SPDI:: NC_000012.12:2049758:C:T
Gene:: CACNA1C (Varview), CACNA1C-IT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.2049759C>T, NC_000012.11:g.2158925C>T, NG_008801.2:g.83974C>T, NW_018654718.1:g.391903C>T

Select item 147423126217.

rs1474231262 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:2049634 (GRCh38)
12:2158800 (GRCh37)
Canonical SPDI:: NC_000012.12:2049633:A:G
Gene:: CACNA1C (Varview), CACNA1C-IT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.2049634A>G, NC_000012.11:g.2158800A>G, NG_008801.2:g.83849A>G, NW_018654718.1:g.391778A>G

Select item 147093302418.

rs1470933024 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:2049154 (GRCh38)
12:2158320 (GRCh37)
Canonical SPDI:: NC_000012.12:2049153:C:A,NC_000012.12:2049153:C:G
Gene:: CACNA1C (Varview), CACNA1C-IT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.2049154C>A, NC_000012.12:g.2049154C>G, NC_000012.11:g.2158320C>A, NC_000012.11:g.2158320C>G, NG_008801.2:g.83369C>A, NG_008801.2:g.83369C>G, NW_018654718.1:g.391298C>A, NW_018654718.1:g.391298C>G, NR_046768.1:n.280C>A, NR_046768.1:n.280C>G

Select item 147081351519.

rs1470813515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:2049172 (GRCh38)
12:2158338 (GRCh37)
Canonical SPDI:: NC_000012.12:2049171:G:A
Gene:: CACNA1C (Varview), CACNA1C-IT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.2049172G>A, NC_000012.11:g.2158338G>A, NG_008801.2:g.83387G>A, NW_018654718.1:g.391316G>A, NR_046768.1:n.298G>A

Select item 147080031220.

rs1470800312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:2049408 (GRCh38)
12:2158574 (GRCh37)
Canonical SPDI:: NC_000012.12:2049407:G:C
Gene:: CACNA1C (Varview), CACNA1C-IT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.2049408G>C, NC_000012.11:g.2158574G>C, NG_008801.2:g.83623G>C, NW_018654718.1:g.391552G>C, NR_046768.1:n.534G>C

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