SNP Links for Gene (Select 647219) - SNP

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Select item 14911697361.

rs1491169736 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:201113774 (GRCh38)
1:201082902 (GRCh37)
Canonical SPDI:: NC_000001.11:201113773:CA:
Gene:: CACNA1S (Varview), ASCL5 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.201113774_201113775del, NC_000001.10:g.201082902_201082903del, NG_009816.2:g.3792_3793del

Select item 14910773032.

rs1491077303 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:201113663 (GRCh38)
1:201082791 (GRCh37)
Canonical SPDI:: NC_000001.11:201113662:CT:
Gene:: CACNA1S (Varview), ASCL5 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.201113663_201113664del, NC_000001.10:g.201082791_201082792del, NG_009816.2:g.3903_3904del

Select item 14908638933.

rs1490863893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:201114110 (GRCh38)
1:201083238 (GRCh37)
Canonical SPDI:: NC_000001.11:201114109:C:A,NC_000001.11:201114109:C:T
Gene:: CACNA1S (Varview), ASCL5 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.201114110C>A, NC_000001.11:g.201114110C>T, NC_000001.10:g.201083238C>A, NC_000001.10:g.201083238C>T, NG_009816.2:g.3457G>T, NG_009816.2:g.3457G>A, NM_001270601.2:c.*642G>T, NM_001270601.2:c.*642G>A, NM_001270601.1:c.*642G>T, NM_001270601.1:c.*642G>A

Select item 14903738134.

rs1490373813 has merged into rs35677478 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:201113788 (GRCh38)
1:201082916 (GRCh37)
Canonical SPDI:: NC_000001.11:201113774:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:201113774:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:201113774:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:201113774:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:201113774:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:201113774:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:201113774:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:201113774:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:201113774:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201113774:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201113774:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201113774:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201113774:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201113774:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201113774:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201113774:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201113774:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201113774:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201113774:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201113774:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201113774:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CACNA1S (Varview), ASCL5 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.023363/6184 (TOPMED)
HGVS:: NC_000001.11:g.201113788_201113799del, NC_000001.11:g.201113789_201113799del, NC_000001.11:g.201113790_201113799del, NC_000001.11:g.201113791_201113799del, NC_000001.11:g.201113792_201113799del, NC_000001.11:g.201113793_201113799del, NC_000001.11:g.201113794_201113799del, NC_000001.11:g.201113795_201113799del, NC_000001.11:g.201113796_201113799del, NC_000001.11:g.201113797_201113799del, NC_000001.11:g.201113798_201113799del, NC_000001.11:g.201113799del, NC_000001.11:g.201113799dup, NC_000001.11:g.201113798_201113799dup, NC_000001.11:g.201113797_201113799dup, NC_000001.11:g.201113796_201113799dup, NC_000001.11:g.201113795_201113799dup, NC_000001.11:g.201113794_201113799dup, NC_000001.11:g.201113793_201113799dup, NC_000001.11:g.201113792_201113799dup, NC_000001.11:g.201113799_201113800insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.201082916_201082927del, NC_000001.10:g.201082917_201082927del, NC_000001.10:g.201082918_201082927del, NC_000001.10:g.201082919_201082927del, NC_000001.10:g.201082920_201082927del, NC_000001.10:g.201082921_201082927del, NC_000001.10:g.201082922_201082927del, NC_000001.10:g.201082923_201082927del, NC_000001.10:g.201082924_201082927del, NC_000001.10:g.201082925_201082927del, NC_000001.10:g.201082926_201082927del, NC_000001.10:g.201082927del, NC_000001.10:g.201082927dup, NC_000001.10:g.201082926_201082927dup, NC_000001.10:g.201082925_201082927dup, NC_000001.10:g.201082924_201082927dup, NC_000001.10:g.201082923_201082927dup, NC_000001.10:g.201082922_201082927dup, NC_000001.10:g.201082921_201082927dup, NC_000001.10:g.201082920_201082927dup, NC_000001.10:g.201082927_201082928insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009816.2:g.3781_3792del, NG_009816.2:g.3782_3792del, NG_009816.2:g.3783_3792del, NG_009816.2:g.3784_3792del, NG_009816.2:g.3785_3792del, NG_009816.2:g.3786_3792del, NG_009816.2:g.3787_3792del, NG_009816.2:g.3788_3792del, NG_009816.2:g.3789_3792del, NG_009816.2:g.3790_3792del, NG_009816.2:g.3791_3792del, NG_009816.2:g.3792del, NG_009816.2:g.3792dup, NG_009816.2:g.3791_3792dup, NG_009816.2:g.3790_3792dup, NG_009816.2:g.3789_3792dup, NG_009816.2:g.3788_3792dup, NG_009816.2:g.3787_3792dup, NG_009816.2:g.3786_3792dup, NG_009816.2:g.3785_3792dup, NG_009816.2:g.3792_3793insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14895643115.

rs1489564311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:201115002 (GRCh38)
1:201084130 (GRCh37)
Canonical SPDI:: NC_000001.11:201115001:G:C
Gene:: ASCL5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000001.11:g.201115002G>C, NC_000001.10:g.201084130G>C, NG_009816.2:g.2565C>G, NM_001270601.2:c.371C>G, NM_001270601.1:c.371C>G, NP_001257530.1:p.Thr124Arg

Select item 14876637396.

rs1487663739 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:201115136 (GRCh38)
1:201084264 (GRCh37)
Canonical SPDI:: NC_000001.11:201115135:GGGG:GGG
Gene:: ASCL5 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.201115139del, NC_000001.10:g.201084267del, NG_009816.2:g.2431del, NM_001270601.2:c.237del, NM_001270601.1:c.237del, NP_001257530.1:p.Phe80fs

Select item 14866632007.

rs1486663200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:201116550 (GRCh38)
1:201085678 (GRCh37)
Canonical SPDI:: NC_000001.11:201116549:G:T
Gene:: ASCL5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.201116550G>T, NC_000001.10:g.201085678G>T, NG_009816.2:g.1017C>A

Select item 14846387678.

rs1484638767 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:201116257 (GRCh38)
1:201085385 (GRCh37)
Canonical SPDI:: NC_000001.11:201116256:A:C,NC_000001.11:201116256:A:G
Gene:: ASCL5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.201116257A>C, NC_000001.11:g.201116257A>G, NC_000001.10:g.201085385A>C, NC_000001.10:g.201085385A>G, NG_009816.2:g.1310T>G, NG_009816.2:g.1310T>C

Select item 14844578979.

rs1484457897 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAG [Show Flanks]
Chromosome:: 1:201116317 (GRCh38)
1:201085446 (GRCh37)
Canonical SPDI:: NC_000001.11:201116317:GAAG:GAAGAAG
Gene:: ASCL5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAGAAG=0./0 (ALFA)
GAA=0.000004/1 (TOPMED)
GAA=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.201116319_201116321dup, NC_000001.10:g.201085447_201085449dup, NG_009816.2:g.1247_1249dup

Select item 148440816310.

rs1484408163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:201115337 (GRCh38)
1:201084465 (GRCh37)
Canonical SPDI:: NC_000001.11:201115336:C:T
Gene:: ASCL5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.201115337C>T, NC_000001.10:g.201084465C>T, NG_009816.2:g.2230G>A, NM_001270601.2:c.36G>A, NM_001270601.1:c.36G>A

Select item 148394292811.

rs1483942928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:201116214 (GRCh38)
1:201085342 (GRCh37)
Canonical SPDI:: NC_000001.11:201116213:C:G
Gene:: ASCL5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.201116214C>G, NC_000001.10:g.201085342C>G, NG_009816.2:g.1353G>C

Select item 148342373812.

rs1483423738 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 1:201114926 (GRCh38)
1:201084054 (GRCh37)
Canonical SPDI:: NC_000001.11:201114925:G:A,NC_000001.11:201114925:G:C,NC_000001.11:201114925:G:T
Gene:: ASCL5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.201114926G>A, NC_000001.11:g.201114926G>C, NC_000001.11:g.201114926G>T, NC_000001.10:g.201084054G>A, NC_000001.10:g.201084054G>C, NC_000001.10:g.201084054G>T, NG_009816.2:g.2641C>T, NG_009816.2:g.2641C>G, NG_009816.2:g.2641C>A, NM_001270601.2:c.447C>T, NM_001270601.2:c.447C>G, NM_001270601.2:c.447C>A, NM_001270601.1:c.447C>T, NM_001270601.1:c.447C>G, NM_001270601.1:c.447C>A

Select item 148265441713.

rs1482654417 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:201117092 (GRCh38)
1:201086220 (GRCh37)
Canonical SPDI:: NC_000001.11:201117091:G:T
Gene:: ASCL5 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.201117092G>T, NC_000001.10:g.201086220G>T, NG_009816.2:g.475C>A

Select item 148247946014.

rs1482479460 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:201117255 (GRCh38)
1:201086383 (GRCh37)
Canonical SPDI:: NC_000001.11:201117254:A:G
Gene:: ASCL5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
G=0.001092/2 (Korea1K)
HGVS:: NC_000001.11:g.201117255A>G, NC_000001.10:g.201086383A>G, NG_009816.2:g.312T>C

Select item 148245060415.

rs1482450604 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:201114513 (GRCh38)
1:201083641 (GRCh37)
Canonical SPDI:: NC_000001.11:201114512:G:C
Gene:: ASCL5 (Varview)
Functional Consequence:: 3_prime_UTR_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_000001.11:g.201114513G>C, NC_000001.10:g.201083641G>C, NG_009816.2:g.3054C>G, NM_001270601.2:c.*239C>G, NM_001270601.1:c.*239C>G

Select item 148227105716.

rs1482271057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:201114398 (GRCh38)
1:201083526 (GRCh37)
Canonical SPDI:: NC_000001.11:201114397:G:A
Gene:: CACNA1S (Varview), ASCL5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.201114398G>A, NC_000001.10:g.201083526G>A, NG_009816.2:g.3169C>T, NM_001270601.2:c.*354C>T, NM_001270601.1:c.*354C>T

Select item 148221185517.

rs1482211855 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:201113802 (GRCh38)
1:201082930 (GRCh37)
Canonical SPDI:: NC_000001.11:201113801:C:A
Gene:: CACNA1S (Varview), ASCL5 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00403/18 (ALFA)
A=0.00874/146 (TOMMO)
HGVS:: NC_000001.11:g.201113802C>A, NC_000001.10:g.201082930C>A, NG_009816.2:g.3765G>T

Select item 148174455618.

rs1481744556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:201114184 (GRCh38)
1:201083312 (GRCh37)
Canonical SPDI:: NC_000001.11:201114183:G:T
Gene:: CACNA1S (Varview), ASCL5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.201114184G>T, NC_000001.10:g.201083312G>T, NG_009816.2:g.3383C>A, NM_001270601.2:c.*568C>A, NM_001270601.1:c.*568C>A

Select item 148153585519.

rs1481535855 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:201114840 (GRCh38)
1:201083968 (GRCh37)
Canonical SPDI:: NC_000001.11:201114839:C:T
Gene:: ASCL5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.201114840C>T, NC_000001.10:g.201083968C>T, NG_009816.2:g.2727G>A, NM_001270601.2:c.533G>A, NM_001270601.1:c.533G>A, NP_001257530.1:p.Arg178Gln

Select item 148076061020.

rs1480760610 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:201113847 (GRCh38)
1:201082975 (GRCh37)
Canonical SPDI:: NC_000001.11:201113846:C:G,NC_000001.11:201113846:C:T
Gene:: CACNA1S (Varview), ASCL5 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000022/3 (GnomAD)
HGVS:: NC_000001.11:g.201113847C>G, NC_000001.11:g.201113847C>T, NC_000001.10:g.201082975C>G, NC_000001.10:g.201082975C>T, NG_009816.2:g.3720G>C, NG_009816.2:g.3720G>A

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