SNP Links for Gene (Select 59285) - SNP

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Select item 14911611971.

rs1491161197 has merged into rs537725151 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:54013026 (GRCh38)
19:54516280 (GRCh37)
Canonical SPDI:: NC_000019.10:54013013:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:54013013:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:54013013:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:54013013:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:54013013:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:54013013:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:54013013:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:54013013:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CACNG6 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.20907/1047 (1000Genomes)
HGVS:: NC_000019.10:g.54013026_54013029del, NC_000019.10:g.54013027_54013029del, NC_000019.10:g.54013028_54013029del, NC_000019.10:g.54013029del, NC_000019.10:g.54013029dup, NC_000019.10:g.54013028_54013029dup, NC_000019.10:g.54013027_54013029dup, NC_000019.10:g.54013022_54013029dup, NC_000019.9:g.54516280_54516283del, NC_000019.9:g.54516281_54516283del, NC_000019.9:g.54516282_54516283del, NC_000019.9:g.54516283del, NC_000019.9:g.54516283dup, NC_000019.9:g.54516282_54516283dup, NC_000019.9:g.54516281_54516283dup, NC_000019.9:g.54516276_54516283dup

Select item 14910516362.

rs1491051636 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG,TTTTTG [Show Flanks]
Chromosome:: 19:54002274 (GRCh38)
19:54505529 (GRCh37)
Canonical SPDI:: NC_000019.10:54002274::TG,NC_000019.10:54002274::TTTTTG
Gene:: CACNG6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTG=0./0 (ALFA)
TG=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.54002274_54002275insTG, NC_000019.10:g.54002274_54002275insTTTTTG, NC_000019.9:g.54505528_54505529insTG, NC_000019.9:g.54505528_54505529insTTTTTG

Select item 14910460573.

rs1491046057 has merged into rs1555819785 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATA>-,TA,TATA,TATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 19:54011221 (GRCh38)
19:54514475 (GRCh37)
Canonical SPDI:: NC_000019.10:54011205:ATATATATATATATATATATATA:ATATATATATATATA,NC_000019.10:54011205:ATATATATATATATATATATATA:ATATATATATATATATA,NC_000019.10:54011205:ATATATATATATATATATATATA:ATATATATATATATATATA,NC_000019.10:54011205:ATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000019.10:54011205:ATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000019.10:54011205:ATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000019.10:54011205:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000019.10:54011205:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000019.10:54011205:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000019.10:54011205:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000019.10:54011205:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000019.10:54011205:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000019.10:54011205:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000019.10:54011205:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000019.10:54011205:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000019.10:54011205:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA,NC_000019.10:54011205:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATA
Gene:: CACNG6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATA=0./0 (ALFA)
HGVS:: NC_000019.10:g.54011207TA[7], NC_000019.10:g.54011207TA[8], NC_000019.10:g.54011207TA[9], NC_000019.10:g.54011207TA[10], NC_000019.10:g.54011207TA[12], NC_000019.10:g.54011207TA[13], NC_000019.10:g.54011207TA[14], NC_000019.10:g.54011207TA[15], NC_000019.10:g.54011207TA[16], NC_000019.10:g.54011207TA[17], NC_000019.10:g.54011207TA[18], NC_000019.10:g.54011207TA[19], NC_000019.10:g.54011207TA[20], NC_000019.10:g.54011207TA[21], NC_000019.10:g.54011207TA[22], NC_000019.10:g.54011207TA[23], NC_000019.10:g.54011207TA[24], NC_000019.9:g.54514461TA[7], NC_000019.9:g.54514461TA[8], NC_000019.9:g.54514461TA[9], NC_000019.9:g.54514461TA[10], NC_000019.9:g.54514461TA[12], NC_000019.9:g.54514461TA[13], NC_000019.9:g.54514461TA[14], NC_000019.9:g.54514461TA[15], NC_000019.9:g.54514461TA[16], NC_000019.9:g.54514461TA[17], NC_000019.9:g.54514461TA[18], NC_000019.9:g.54514461TA[19], NC_000019.9:g.54514461TA[20], NC_000019.9:g.54514461TA[21], NC_000019.9:g.54514461TA[22], NC_000019.9:g.54514461TA[23], NC_000019.9:g.54514461TA[24]

Select item 14910450904.

rs1491045090 has merged into rs532047922 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:54004334 (GRCh38)
19:54507588 (GRCh37)
Canonical SPDI:: NC_000019.10:54004331:TTTTT:TT,NC_000019.10:54004331:TTTTT:TTT,NC_000019.10:54004331:TTTTT:TTTT,NC_000019.10:54004331:TTTTT:TTTTTTT,NC_000019.10:54004331:TTTTT:TTTTTTTT,NC_000019.10:54004331:TTTTT:TTTTTTTTT,NC_000019.10:54004331:TTTTT:TTTTTTTTTT,NC_000019.10:54004331:TTTTT:TTTTTTTTTTTT,NC_000019.10:54004331:TTTTT:TTTTTTTTTTTTTT,NC_000019.10:54004331:TTTTT:TTTTTTTTTTTTTTTT
Gene:: CACNG6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.00032/5 (TOMMO)
-=0.005/3 (NorthernSweden)
HGVS:: NC_000019.10:g.54004334_54004336del, NC_000019.10:g.54004335_54004336del, NC_000019.10:g.54004336del, NC_000019.10:g.54004335_54004336dup, NC_000019.10:g.54004334_54004336dup, NC_000019.10:g.54004333_54004336dup, NC_000019.10:g.54004332_54004336dup, NC_000019.10:g.54004336_54004337insTTTTTTT, NC_000019.10:g.54004336_54004337insTTTTTTTTT, NC_000019.10:g.54004336_54004337insTTTTTTTTTTT, NC_000019.9:g.54507588_54507590del, NC_000019.9:g.54507589_54507590del, NC_000019.9:g.54507590del, NC_000019.9:g.54507589_54507590dup, NC_000019.9:g.54507588_54507590dup, NC_000019.9:g.54507587_54507590dup, NC_000019.9:g.54507586_54507590dup, NC_000019.9:g.54507590_54507591insTTTTTTT, NC_000019.9:g.54507590_54507591insTTTTTTTTT, NC_000019.9:g.54507590_54507591insTTTTTTTTTTT

Select item 14910338215.

rs1491033821 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 19:54002275 (GRCh38)
19:54505529 (GRCh37)
Canonical SPDI:: NC_000019.10:54002273:TGT:T
Gene:: CACNG6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00649/77 (ALFA)
HGVS:: NC_000019.10:g.54002275_54002276del, NC_000019.9:g.54505529_54505530del

Select item 14909603646.

rs1490960364 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53996407 (GRCh38)
19:54499661 (GRCh37)
Canonical SPDI:: NC_000019.10:53996406:T:C
Gene:: CACNG6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.53996407T>C, NC_000019.9:g.54499661T>C

Select item 14909249217.

rs1490924921 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53996200 (GRCh38)
19:54499454 (GRCh37)
Canonical SPDI:: NC_000019.10:53996199:G:A
Gene:: CACNG6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000106/2 (TOMMO)
A=0.005/3 (NorthernSweden)
HGVS:: NC_000019.10:g.53996200G>A, NC_000019.9:g.54499454G>A

Select item 14909091308.

rs1490909130 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATT,T,TTT [Show Flanks]
Chromosome:: 19:53998509 (GRCh38)
19:54501764 (GRCh37)
Canonical SPDI:: NC_000019.10:53998509:T:TATT,NC_000019.10:53998509:T:TT,NC_000019.10:53998509:T:TTTT
Gene:: CACNG6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.000108/2 (ALFA)
TAT=0.00001/1 (GnomAD)
TTT=0.000071/1 (TOMMO)
HGVS:: NC_000019.10:g.53998510_53998511insATT, NC_000019.10:g.53998510dup, NC_000019.10:g.53998510_53998511insTTT, NC_000019.9:g.54501764_54501765insATT, NC_000019.9:g.54501764dup, NC_000019.9:g.54501764_54501765insTTT

Select item 14908930819.

rs1490893081 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:54002287 (GRCh38)
19:54505541 (GRCh37)
Canonical SPDI:: NC_000019.10:54002286:T:G
Gene:: CACNG6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000022/3 (GnomAD)
HGVS:: NC_000019.10:g.54002287T>G, NC_000019.9:g.54505541T>G

Select item 149088935910.

rs1490889359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:53989307 (GRCh38)
19:54492561 (GRCh37)
Canonical SPDI:: NC_000019.10:53989306:G:T
Gene:: CACNG8 (Varview), CACNG6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.53989307G>T, NC_000019.9:g.54492561G>T, NM_031895.6:c.*6458G>T, NM_031895.5:c.*6458G>T

Select item 149053387311.

rs1490533873 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53994340 (GRCh38)
19:54497594 (GRCh37)
Canonical SPDI:: NC_000019.10:53994339:T:C
Gene:: CACNG6 (Varview)
Functional Consequence:: intron_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_000019.10:g.53994340T>C, NC_000019.9:g.54497594T>C

Select item 149047705912.

rs1490477059 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:53995340 (GRCh38)
19:54498594 (GRCh37)
Canonical SPDI:: NC_000019.10:53995339:A:G
Gene:: CACNG6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.53995340A>G, NC_000019.9:g.54498594A>G

Select item 149045470313.

rs1490454703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:54007957 (GRCh38)
19:54511211 (GRCh37)
Canonical SPDI:: NC_000019.10:54007956:G:A
Gene:: CACNG6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.54007957G>A, NC_000019.9:g.54511211G>A

Select item 149034130714.

rs1490341307 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:54009958 (GRCh38)
19:54513212 (GRCh37)
Canonical SPDI:: NC_000019.10:54009957:A:G
Gene:: CACNG6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.54009958A>G, NC_000019.9:g.54513212A>G

Select item 149032695515.

rs1490326955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:54011754 (GRCh38)
19:54515008 (GRCh37)
Canonical SPDI:: NC_000019.10:54011753:G:A
Gene:: CACNG6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000019.10:g.54011754G>A, NC_000019.9:g.54515008G>A

Select item 149020208716.

rs1490202087 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53995227 (GRCh38)
19:54498481 (GRCh37)
Canonical SPDI:: NC_000019.10:53995226:T:C
Gene:: CACNG6 (Varview)
Functional Consequence:: intron_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_000019.10:g.53995227T>C, NC_000019.9:g.54498481T>C

Select item 149014247117.

rs1490142471 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:53995508 (GRCh38)
19:54498762 (GRCh37)
Canonical SPDI:: NC_000019.10:53995507:A:T
Gene:: CACNG6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.53995508A>T, NC_000019.9:g.54498762A>T

Select item 149013084118.

rs1490130841 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:53996025 (GRCh38)
19:54499279 (GRCh37)
Canonical SPDI:: NC_000019.10:53996024:T:G
Gene:: CACNG6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53996025T>G, NC_000019.9:g.54499279T>G

Select item 149012801819.

rs1490128018 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:54012176 (GRCh38)
19:54515430 (GRCh37)
Canonical SPDI:: NC_000019.10:54012175:A:G
Gene:: CACNG6 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.54012176A>G, NC_000019.9:g.54515430A>G, NM_031897.3:c.557A>G, NM_031897.2:c.557A>G, NM_145814.2:c.770A>G, NM_145814.1:c.770A>G, NM_145815.2:c.632A>G, NM_145815.1:c.632A>G, NR_102308.2:n.350A>G, NR_102308.1:n.350A>G, NP_114103.2:p.His186Arg, NP_665813.1:p.His257Arg, NP_665814.1:p.His211Arg

Select item 148996375920.

rs1489963759 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:54008426 (GRCh38)
19:54511680 (GRCh37)
Canonical SPDI:: NC_000019.10:54008425:C:T
Gene:: CACNG6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.54008426C>T, NC_000019.9:g.54511680C>T

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