SNP Links for Gene (Select 27012) - SNP

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Items: 1 to 20 of 3173

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Select item 14914556851.

rs1491455685 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->ATAATA
Chromosome:: no mapping
Canonical SPDI:

Select item 14912502262.

rs1491250226 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 8:109963201 (GRCh38)
8:110975430 (GRCh37)
Canonical SPDI:: NC_000008.11:109963198:TATA:TA
Gene:: KCNV1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATA=0./0 (ALFA)
-=0.000008/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.109963199TA[1], NC_000008.10:g.110975428TA[1]

Select item 14907562133.

rs1490756213 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:109972905 (GRCh38)
8:110985134 (GRCh37)
Canonical SPDI:: NC_000008.11:109972904:T:A,NC_000008.11:109972904:T:C
Gene:: KCNV1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.109972905T>A, NC_000008.11:g.109972905T>C, NC_000008.10:g.110985134T>A, NC_000008.10:g.110985134T>C

Select item 14902143274.

rs1490214327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:109969836 (GRCh38)
8:110982065 (GRCh37)
Canonical SPDI:: NC_000008.11:109969835:C:T
Gene:: KCNV1 (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_000008.11:g.109969836C>T, NC_000008.10:g.110982065C>T

Select item 14897465945.

rs1489746594 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCACACT>- [Show Flanks]
Chromosome:: 8:109968702 (GRCh38)
8:110980931 (GRCh37)
Canonical SPDI:: NC_000008.11:109968697:CACTGCACACT:CACT
Gene:: KCNV1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.109968702_109968708del, NC_000008.10:g.110980931_110980937del

Select item 14897028356.

rs1489702835 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:109973743 (GRCh38)
8:110985972 (GRCh37)
Canonical SPDI:: NC_000008.11:109973742:A:G
Gene:: KCNV1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.109973743A>G, NC_000008.10:g.110985972A>G

Select item 14896513187.

rs1489651318 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 8:109970839 (GRCh38)
8:110983068 (GRCh37)
Canonical SPDI:: NC_000008.11:109970838:TT:T
Gene:: KCNV1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.109970840del, NC_000008.10:g.110983069del

Select item 14896505248.

rs1489650524 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:109969402 (GRCh38)
8:110981631 (GRCh37)
Canonical SPDI:: NC_000008.11:109969401:G:C
Gene:: KCNV1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.109969402G>C, NC_000008.10:g.110981631G>C

Select item 14896203969.

rs1489620396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:109970456 (GRCh38)
8:110982685 (GRCh37)
Canonical SPDI:: NC_000008.11:109970455:G:A
Gene:: KCNV1 (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_000008.11:g.109970456G>A, NC_000008.10:g.110982685G>A

Select item 148930201510.

rs1489302015 has merged into rs1264204134 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 8:109973191 (GRCh38)
8:110985420 (GRCh37)
Canonical SPDI:: NC_000008.11:109973190:GGGGGGG:GGGGGG,NC_000008.11:109973190:GGGGGGG:GGGGGGGG
Gene:: KCNV1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000468/3 (1000Genomes)
HGVS:: NC_000008.11:g.109973197del, NC_000008.11:g.109973197dup, NC_000008.10:g.110985426del, NC_000008.10:g.110985426dup

Select item 148929139111.

rs1489291391 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:109967517 (GRCh38)
8:110979746 (GRCh37)
Canonical SPDI:: NC_000008.11:109967516:CA:
Gene:: KCNV1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.109967517_109967518del, NC_000008.10:g.110979746_110979747del, NM_014379.4:c.*570_*571del, NM_014379.3:c.*570_*571del, NM_014379.2:c.*570_*571del

Select item 148923994212.

rs1489239942 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:109964851 (GRCh38)
8:110977080 (GRCh37)
Canonical SPDI:: NC_000008.11:109964850:G:A
Gene:: KCNV1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000045/12 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000008.11:g.109964851G>A, NC_000008.10:g.110977080G>A, NM_014379.4:c.*3237C>T, NM_014379.3:c.*3237C>T

Select item 148908306313.

rs1489083063 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 8:109977208 (GRCh38)
8:110989437 (GRCh37)
Canonical SPDI:: NC_000008.11:109977207:TT:T
Gene:: KCNV1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000084/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.109977209del, NC_000008.10:g.110989438del

Select item 148865216414.

rs1488652164 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:109973262 (GRCh38)
8:110985491 (GRCh37)
Canonical SPDI:: NC_000008.11:109973261:G:A,NC_000008.11:109973261:G:T
Gene:: KCNV1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.109973262G>A, NC_000008.11:g.109973262G>T, NC_000008.10:g.110985491G>A, NC_000008.10:g.110985491G>T

Select item 148830133815.

rs1488301338 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:109966272 (GRCh38)
8:110978501 (GRCh37)
Canonical SPDI:: NC_000008.11:109966271:C:T
Gene:: KCNV1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.109966272C>T, NC_000008.10:g.110978501C>T, NM_014379.4:c.*1816G>A, NM_014379.3:c.*1816G>A

Select item 148765163216.

rs1487651632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:109968964 (GRCh38)
8:110981193 (GRCh37)
Canonical SPDI:: NC_000008.11:109968963:G:C
Gene:: KCNV1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.109968964G>C, NC_000008.10:g.110981193G>C

Select item 148760888817.

rs1487608888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:109969623 (GRCh38)
8:110981852 (GRCh37)
Canonical SPDI:: NC_000008.11:109969622:G:C
Gene:: KCNV1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000008.11:g.109969623G>C, NC_000008.10:g.110981852G>C

Select item 148758492618.

rs1487584926 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:109972589 (GRCh38)
8:110984818 (GRCh37)
Canonical SPDI:: NC_000008.11:109972588:C:G
Gene:: KCNV1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000008.11:g.109972589C>G, NC_000008.10:g.110984818C>G, NM_014379.4:c.660G>C, NM_014379.3:c.660G>C, NM_014379.2:c.660G>C

Select item 148746800219.

rs1487468002 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 8:109973257 (GRCh38)
8:110985486 (GRCh37)
Canonical SPDI:: NC_000008.11:109973256:C:
Gene:: KCNV1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.109973257del, NC_000008.10:g.110985486del

Select item 148682236520.

rs1486822365 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:109974342 (GRCh38)
8:110986571 (GRCh37)
Canonical SPDI:: NC_000008.11:109974341:C:T
Gene:: KCNV1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.109974342C>T, NC_000008.10:g.110986571C>T, NM_014379.4:c.47G>A, NM_014379.3:c.47G>A, NM_014379.2:c.47G>A, NP_055194.1:p.Gly16Asp

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