SNP Links for Gene (Select 140894) - SNP

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Select item 14915724091.

rs1491572409 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 20:35978320 (GRCh38)
20:34566242 (GRCh37)
Canonical SPDI:: NC_000020.11:35978319:AG:
Gene:: CNBD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.35978320_35978321del, NC_000020.10:g.34566242_34566243del

Select item 14915519592.

rs1491551959 has merged into rs35383989 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 20:36017071 (GRCh38)
20:34604993 (GRCh37)
Canonical SPDI:: NC_000020.11:36017058:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:36017058:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:36017058:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:36017058:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:36017058:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:36017058:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:36017058:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:36017058:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36017058:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: CNBD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3295/1650 (1000Genomes)
HGVS:: NC_000020.11:g.36017071_36017077del, NC_000020.11:g.36017073_36017077del, NC_000020.11:g.36017074_36017077del, NC_000020.11:g.36017075_36017077del, NC_000020.11:g.36017076_36017077del, NC_000020.11:g.36017077del, NC_000020.11:g.36017077dup, NC_000020.11:g.36017076_36017077dup, NC_000020.11:g.36017074_36017077dup, NC_000020.10:g.34604993_34604999del, NC_000020.10:g.34604995_34604999del, NC_000020.10:g.34604996_34604999del, NC_000020.10:g.34604997_34604999del, NC_000020.10:g.34604998_34604999del, NC_000020.10:g.34604999del, NC_000020.10:g.34604999dup, NC_000020.10:g.34604998_34604999dup, NC_000020.10:g.34604996_34604999dup

Select item 14914643883.

rs1491464388 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG [Show Flanks]
Chromosome:: 20:35978320 (GRCh38)
20:34566243 (GRCh37)
Canonical SPDI:: NC_000020.11:35978320:GTGTGTG:GTGTGTGTG
Gene:: CNBD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTG=0./0 (ALFA)
GT=0.000004/1 (TOPMED)
GT=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.35978322TG[4], NC_000020.10:g.34566244TG[4]

Select item 14914408624.

rs1491440862 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 20:35999678 (GRCh38)
20:34587601 (GRCh37)
Canonical SPDI:: NC_000020.11:35999678:C:CC
Gene:: CNBD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000015/2 (GnomAD)
HGVS:: NC_000020.11:g.35999679dup, NC_000020.10:g.34587601dup

Select item 14913788925.

rs1491378892 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 20:35965184 (GRCh38)
20:34553107 (GRCh37)
Canonical SPDI:: NC_000020.11:35965184::C
Gene:: CNBD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00025/3 (ALFA)
C=0.00018/5 (TOMMO)
HGVS:: NC_000020.11:g.35965184_35965185insC, NC_000020.10:g.34553106_34553107insC

Select item 14913555186.

rs1491355518 [Homo sapiens]

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

Select item 14913453637.

rs1491345363 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:36017058 (GRCh38)
20:34604980 (GRCh37)
Canonical SPDI:: NC_000020.11:36017057:CA:
Gene:: CNBD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.36017058_36017059del, NC_000020.10:g.34604980_34604981del

Select item 14913245948.

rs1491324594 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 20:36019521 (GRCh38)
20:34607444 (GRCh37)
Canonical SPDI:: NC_000020.11:36019521:AAAAAAA:AAAAAAAA
Gene:: CNBD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.00003/1 (GnomAD)
HGVS:: NC_000020.11:g.36019528dup, NC_000020.10:g.34607450dup

Select item 14913097649.

rs1491309764 [Homo sapiens]

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

Select item 149121390510.

rs1491213905 has merged into rs35106057 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 20:35999691 (GRCh38)
20:34587613 (GRCh37)
Canonical SPDI:: NC_000020.11:35999679:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:35999679:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:35999679:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:35999679:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:35999679:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:35999679:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:35999679:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: CNBD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.10033/60 (NorthernSweden)
T=0.21326/1068 (1000Genomes)
T=0.25/10 (GENOME_DK)
HGVS:: NC_000020.11:g.35999691_35999694del, NC_000020.11:g.35999692_35999694del, NC_000020.11:g.35999693_35999694del, NC_000020.11:g.35999694del, NC_000020.11:g.35999694dup, NC_000020.11:g.35999693_35999694dup, NC_000020.11:g.35999692_35999694dup, NC_000020.10:g.34587613_34587616del, NC_000020.10:g.34587614_34587616del, NC_000020.10:g.34587615_34587616del, NC_000020.10:g.34587616del, NC_000020.10:g.34587616dup, NC_000020.10:g.34587615_34587616dup, NC_000020.10:g.34587614_34587616dup

Select item 149116946811.

rs1491169468 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:36019521 (GRCh38)
20:34607443 (GRCh37)
Canonical SPDI:: NC_000020.11:36019520:CA:
Gene:: CNBD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.36019521_36019522del, NC_000020.10:g.34607443_34607444del

Select item 149114797712.

rs1491147977 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:35999679 (GRCh38)
20:34587601 (GRCh37)
Canonical SPDI:: NC_000020.11:35999677:TCT:T
Gene:: CNBD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
-=0.000053/7 (GnomAD)
HGVS:: NC_000020.11:g.35999679_35999680del, NC_000020.10:g.34587601_34587602del

Select item 149113533913.

rs1491135339 has merged into rs369573397 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 20:35965197 (GRCh38)
20:34553119 (GRCh37)
Canonical SPDI:: NC_000020.11:35965183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:35965183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:35965183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:35965183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:35965183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:35965183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:35965183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:35965183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: CNBD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000020.11:g.35965197_35965200del, NC_000020.11:g.35965198_35965200del, NC_000020.11:g.35965199_35965200del, NC_000020.11:g.35965200del, NC_000020.11:g.35965200dup, NC_000020.11:g.35965199_35965200dup, NC_000020.11:g.35965198_35965200dup, NC_000020.11:g.35965196_35965200dup, NC_000020.10:g.34553119_34553122del, NC_000020.10:g.34553120_34553122del, NC_000020.10:g.34553121_34553122del, NC_000020.10:g.34553122del, NC_000020.10:g.34553122dup, NC_000020.10:g.34553121_34553122dup, NC_000020.10:g.34553120_34553122dup, NC_000020.10:g.34553118_34553122dup

Select item 149093563814.

rs1490935638 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:36001854 (GRCh38)
20:34589776 (GRCh37)
Canonical SPDI:: NC_000020.11:36001853:G:A
Gene:: CNBD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.36001854G>A, NC_000020.10:g.34589776G>A

Select item 149090837415.

rs1490908374 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:36025571 (GRCh38)
20:34613493 (GRCh37)
Canonical SPDI:: NC_000020.11:36025570:C:G,NC_000020.11:36025570:C:T
Gene:: CNBD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
G=0.00006/1 (TOMMO)
HGVS:: NC_000020.11:g.36025571C>G, NC_000020.11:g.36025571C>T, NC_000020.10:g.34613493C>G, NC_000020.10:g.34613493C>T

Select item 149089139916.

rs1490891399 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:36017460 (GRCh38)
20:34605382 (GRCh37)
Canonical SPDI:: NC_000020.11:36017459:T:C
Gene:: CNBD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.36017460T>C, NC_000020.10:g.34605382T>C

Select item 149085597317.

rs1490855973 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:36024486 (GRCh38)
20:34612408 (GRCh37)
Canonical SPDI:: NC_000020.11:36024485:A:G
Gene:: CNBD2 (Varview)
Functional Consequence:: genic_downstream_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_000020.11:g.36024486A>G, NC_000020.10:g.34612408A>G

Select item 149084834818.

rs1490848348 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:35960992 (GRCh38)
20:34548914 (GRCh37)
Canonical SPDI:: NC_000020.11:35960991:T:C
Gene:: SCAND1 (Varview), CNBD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000684/2 (KOREAN)
C=0.001092/2 (Korea1K)
HGVS:: NC_000020.11:g.35960992T>C, NC_000020.10:g.34548914T>C

Select item 149075554719.

rs1490755547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:35962535 (GRCh38)
20:34550457 (GRCh37)
Canonical SPDI:: NC_000020.11:35962534:C:T
Gene:: CNBD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.35962535C>T, NC_000020.10:g.34550457C>T

Select item 149075103320.

rs1490751033 has merged into rs111682277 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTT [Show Flanks]
Chromosome:: 20:35994052 (GRCh38)
20:34581974 (GRCh37)
Canonical SPDI:: NC_000020.11:35994051:TTTTTTTTT:TTTTTTTT,NC_000020.11:35994051:TTTTTTTTT:TTTTTTTTTT,NC_000020.11:35994051:TTTTTTTTT:TTTTTTTTTTT
Gene:: CNBD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.00014/2 (TOMMO)
-=0.00055/1 (Korea1K)
-=0.04167/25 (NorthernSweden)
-=0.06212/62 (GoNL)
-=0.08107/406 (1000Genomes)
HGVS:: NC_000020.11:g.35994060del, NC_000020.11:g.35994060dup, NC_000020.11:g.35994059_35994060dup, NC_000020.10:g.34581982del, NC_000020.10:g.34581982dup, NC_000020.10:g.34581981_34581982dup

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