SNP Links for Gene (Select 786) - SNP

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Select item 14914671631.

rs1491467163 has merged into rs377751953 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:67048317 (GRCh38)
17:65044433 (GRCh37)
Canonical SPDI:: NC_000017.11:67048308:AAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:67048308:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:67048308:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:67048308:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:67048308:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:67048308:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:67048308:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:67048308:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:67048308:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:67048308:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:67048308:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67048308:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: CACNG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.001798/476 (TOPMED)
HGVS:: NC_000017.11:g.67048317_67048325del, NC_000017.11:g.67048318_67048325del, NC_000017.11:g.67048319_67048325del, NC_000017.11:g.67048322_67048325del, NC_000017.11:g.67048323_67048325del, NC_000017.11:g.67048324_67048325del, NC_000017.11:g.67048325del, NC_000017.11:g.67048325dup, NC_000017.11:g.67048324_67048325dup, NC_000017.11:g.67048323_67048325dup, NC_000017.11:g.67048322_67048325dup, NC_000017.11:g.67048321_67048325dup, NC_000017.10:g.65044433_65044441del, NC_000017.10:g.65044434_65044441del, NC_000017.10:g.65044435_65044441del, NC_000017.10:g.65044438_65044441del, NC_000017.10:g.65044439_65044441del, NC_000017.10:g.65044440_65044441del, NC_000017.10:g.65044441del, NC_000017.10:g.65044441dup, NC_000017.10:g.65044440_65044441dup, NC_000017.10:g.65044439_65044441dup, NC_000017.10:g.65044438_65044441dup, NC_000017.10:g.65044437_65044441dup

Select item 14911325342.

rs1491132534 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:67048308 (GRCh38)
17:65044424 (GRCh37)
Canonical SPDI:: NC_000017.11:67048307:CA:
Gene:: CACNG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01054/125 (ALFA)
-=0.00079/36 (GnomAD)
HGVS:: NC_000017.11:g.67048308_67048309del, NC_000017.10:g.65044424_65044425del

Select item 14906957203.

rs1490695720 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:67049811 (GRCh38)
17:65045927 (GRCh37)
Canonical SPDI:: NC_000017.11:67049810:T:G
Gene:: CACNG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000043/6 (GnomAD)
HGVS:: NC_000017.11:g.67049811T>G, NC_000017.10:g.65045927T>G

Select item 14905763314.

rs1490576331 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:67048431 (GRCh38)
17:65044547 (GRCh37)
Canonical SPDI:: NC_000017.11:67048430:A:G
Gene:: CACNG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.67048431A>G, NC_000017.10:g.65044547A>G

Select item 14900645745.

rs1490064574 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:67057028 (GRCh38)
17:65053144 (GRCh37)
Canonical SPDI:: NC_000017.11:67057027:T:C,NC_000017.11:67057027:T:G
Gene:: CACNG1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000017.11:g.67057028T>C, NC_000017.11:g.67057028T>G, NC_000017.10:g.65053144T>C, NC_000017.10:g.65053144T>G

Select item 14897265136.

rs1489726513 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:67048148 (GRCh38)
17:65044264 (GRCh37)
Canonical SPDI:: NC_000017.11:67048147:C:A
Gene:: CACNG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.67048148C>A, NC_000017.10:g.65044264C>A

Select item 14896170397.

rs1489617039 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:67049235 (GRCh38)
17:65045351 (GRCh37)
Canonical SPDI:: NC_000017.11:67049234:T:C
Gene:: CACNG1 (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_000017.11:g.67049235T>C, NC_000017.10:g.65045351T>C

Select item 14894545468.

rs1489454546 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:67051349 (GRCh38)
17:65047465 (GRCh37)
Canonical SPDI:: NC_000017.11:67051348:T:C
Gene:: CACNG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.67051349T>C, NC_000017.10:g.65047465T>C

Select item 14894346819.

rs1489434681 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:67057257 (GRCh38)
17:65053373 (GRCh37)
Canonical SPDI:: NC_000017.11:67057256:T:C
Gene:: CACNG1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.67057257T>C, NC_000017.10:g.65053373T>C

Select item 148940408710.

rs1489404087 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:67047574 (GRCh38)
17:65043690 (GRCh37)
Canonical SPDI:: NC_000017.11:67047573:C:A,NC_000017.11:67047573:C:T
Gene:: CACNG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.67047574C>A, NC_000017.11:g.67047574C>T, NC_000017.10:g.65043690C>A, NC_000017.10:g.65043690C>T

Select item 148925169711.

rs1489251697 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:67048014 (GRCh38)
17:65044130 (GRCh37)
Canonical SPDI:: NC_000017.11:67048013:T:A
Gene:: CACNG1 (Varview)
Functional Consequence:: intron_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_000017.11:g.67048014T>A, NC_000017.10:g.65044130T>A

Select item 148794100012.

rs1487941000 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:67043903 (GRCh38)
17:65040019 (GRCh37)
Canonical SPDI:: NC_000017.11:67043902:G:A
Gene:: CACNG1 (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_000017.11:g.67043903G>A, NC_000017.10:g.65040019G>A

Select item 148776942913.

rs1487769429 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:67047038 (GRCh38)
17:65043154 (GRCh37)
Canonical SPDI:: NC_000017.11:67047037:C:T
Gene:: CACNG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.67047038C>T, NC_000017.10:g.65043154C>T

Select item 148771790914.

rs1487717909 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:67045932 (GRCh38)
17:65042048 (GRCh37)
Canonical SPDI:: NC_000017.11:67045931:G:A,NC_000017.11:67045931:G:T
Gene:: CACNG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.67045932G>A, NC_000017.11:g.67045932G>T, NC_000017.10:g.65042048G>A, NC_000017.10:g.65042048G>T

Select item 148757072715.

rs1487570727 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:67056546 (GRCh38)
17:65052662 (GRCh37)
Canonical SPDI:: NC_000017.11:67056545:G:C
Gene:: CACNG1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000017.11:g.67056546G>C, NC_000017.10:g.65052662G>C, NM_000727.4:c.*275G>C, NM_000727.3:c.*275G>C

Select item 148744281416.

rs1487442814 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:67046573 (GRCh38)
17:65042689 (GRCh37)
Canonical SPDI:: NC_000017.11:67046572:G:A
Gene:: CACNG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.67046573G>A, NC_000017.10:g.65042689G>A

Select item 148739283117.

rs1487392831 has merged into rs71367200 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:67045533 (GRCh38)
17:65041649 (GRCh37)
Canonical SPDI:: NC_000017.11:67045524:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:67045524:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:67045524:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:67045524:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:67045524:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:67045524:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:67045524:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:67045524:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:67045524:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:67045524:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:67045524:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:67045524:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:67045524:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:67045524:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:67045524:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:67045524:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:67045524:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:67045524:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:67045524:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:67045524:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:67045524:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:67045524:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:67045524:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:67045524:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:67045524:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CACNG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.67045533_67045547del, NC_000017.11:g.67045534_67045547del, NC_000017.11:g.67045537_67045547del, NC_000017.11:g.67045538_67045547del, NC_000017.11:g.67045540_67045547del, NC_000017.11:g.67045541_67045547del, NC_000017.11:g.67045542_67045547del, NC_000017.11:g.67045543_67045547del, NC_000017.11:g.67045544_67045547del, NC_000017.11:g.67045545_67045547del, NC_000017.11:g.67045546_67045547del, NC_000017.11:g.67045547del, NC_000017.11:g.67045547dup, NC_000017.11:g.67045546_67045547dup, NC_000017.11:g.67045545_67045547dup, NC_000017.11:g.67045544_67045547dup, NC_000017.11:g.67045543_67045547dup, NC_000017.11:g.67045542_67045547dup, NC_000017.11:g.67045541_67045547dup, NC_000017.11:g.67045540_67045547dup, NC_000017.11:g.67045539_67045547dup, NC_000017.11:g.67045528_67045547dup, NC_000017.11:g.67045547_67045548insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.67045547_67045548insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.67045547_67045548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.65041649_65041663del, NC_000017.10:g.65041650_65041663del, NC_000017.10:g.65041653_65041663del, NC_000017.10:g.65041654_65041663del, NC_000017.10:g.65041656_65041663del, NC_000017.10:g.65041657_65041663del, NC_000017.10:g.65041658_65041663del, NC_000017.10:g.65041659_65041663del, NC_000017.10:g.65041660_65041663del, NC_000017.10:g.65041661_65041663del, NC_000017.10:g.65041662_65041663del, NC_000017.10:g.65041663del, NC_000017.10:g.65041663dup, NC_000017.10:g.65041662_65041663dup, NC_000017.10:g.65041661_65041663dup, NC_000017.10:g.65041660_65041663dup, NC_000017.10:g.65041659_65041663dup, NC_000017.10:g.65041658_65041663dup, NC_000017.10:g.65041657_65041663dup, NC_000017.10:g.65041656_65041663dup, NC_000017.10:g.65041655_65041663dup, NC_000017.10:g.65041644_65041663dup, NC_000017.10:g.65041663_65041664insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.65041663_65041664insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.65041663_65041664insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 148729710418.

rs1487297104 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:67054177 (GRCh38)
17:65050293 (GRCh37)
Canonical SPDI:: NC_000017.11:67054176:T:G
Gene:: CACNG1 (Varview)
Functional Consequence:: 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_000017.11:g.67054177T>G, NC_000017.10:g.65050293T>G

Select item 148729680419.

rs1487296804 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:67046908 (GRCh38)
17:65043024 (GRCh37)
Canonical SPDI:: NC_000017.11:67046907:G:A
Gene:: CACNG1 (Varview)
Functional Consequence:: intron_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_000017.11:g.67046908G>A, NC_000017.10:g.65043024G>A

Select item 148724434920.

rs1487244349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:67052290 (GRCh38)
17:65048406 (GRCh37)
Canonical SPDI:: NC_000017.11:67052289:C:A
Gene:: CACNG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000214/3 (ALFA)
A=0.000034/9 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000017.11:g.67052290C>A, NC_000017.10:g.65048406C>A

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