SNP Links for Nucleotide (Select 1033015335) - SNP

Links from Nucleotide

Items: 1 to 20 of 2206

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Select item 14906806401.

rs1490680640 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30212403 (GRCh38)
21:31584721 (GRCh37)
Canonical SPDI:: NC_000021.9:30212402:A:G
Gene:: LINC00307 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.30212403A>G, NC_000021.8:g.31584721A>G, NG_050758.1:g.8749T>C

Select item 14905345522.

rs1490534552 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30212989 (GRCh38)
21:31585307 (GRCh37)
Canonical SPDI:: NC_000021.9:30212988:A:G
Gene:: LINC00307 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.30212989A>G, NC_000021.8:g.31585307A>G, NG_050758.1:g.8163T>C

Select item 14904989623.

rs1490498962 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:30220022 (GRCh38)
21:31592340 (GRCh37)
Canonical SPDI:: NC_000021.9:30220021:C:A,NC_000021.9:30220021:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000021.9:g.30220022C>A, NC_000021.9:g.30220022C>T, NC_000021.8:g.31592340C>A, NC_000021.8:g.31592340C>T, NG_050758.1:g.1130G>T, NG_050758.1:g.1130G>A

Select item 14901384694.

rs1490138469 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30218328 (GRCh38)
21:31590646 (GRCh37)
Canonical SPDI:: NC_000021.9:30218327:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000036/5 (GnomAD)
A=0.004673/1 (Vietnamese)
HGVS:: NC_000021.9:g.30218328G>A, NC_000021.8:g.31590646G>A, NG_050758.1:g.2824C>T

Select item 14898627795.

rs1489862779 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>G
Chromosome:: no mapping
Canonical SPDI:

Select item 14897058486.

rs1489705848 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:30214461 (GRCh38)
21:31586779 (GRCh37)
Canonical SPDI:: NC_000021.9:30214460:T:G
Gene:: CLDN8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.30214461T>G, NC_000021.8:g.31586779T>G, NG_050758.1:g.6691A>C, NM_199328.3:c.*787A>C, NM_199328.2:c.*787A>C, NM_012132.3:c.*563A>C, NM_012132.2:c.*563A>C

Select item 14895796647.

rs1489579664 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:30217463 (GRCh38)
21:31589781 (GRCh37)
Canonical SPDI:: NC_000021.9:30217462:C:A
Gene:: CLDN8 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000021.9:g.30217463C>A, NC_000021.8:g.31589781C>A, NG_050758.1:g.3689G>T

Select item 14895007998.

rs1489500799 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAAA [Show Flanks]
Chromosome:: 21:30217903 (GRCh38)
21:31590222 (GRCh37)
Canonical SPDI:: NC_000021.9:30217903:AAAA:AAAAGAAAA
Gene:: CLDN8 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AAAAGAAAA=0./0 (ALFA)
HGVS:: NC_000021.9:g.30217904_30217907A[4]GAAAA[1], NC_000021.8:g.31590222_31590225A[4]GAAAA[1], NG_050758.1:g.3245_3248T[4]CTTTT[1]

Select item 14890811969.

rs1489081196 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30217101 (GRCh38)
21:31589419 (GRCh37)
Canonical SPDI:: NC_000021.9:30217100:T:C
Gene:: CLDN8 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000021.9:g.30217101T>C, NC_000021.8:g.31589419T>C, NG_050758.1:g.4051A>G

Select item 148889915810.

rs1488899158 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30213939 (GRCh38)
21:31586257 (GRCh37)
Canonical SPDI:: NC_000021.9:30213938:A:G
Gene:: CLDN8 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_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_000021.9:g.30213939A>G, NC_000021.8:g.31586257A>G, NG_050758.1:g.7213T>C

Select item 148821412311.

rs1488214123 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 21:30212084 (GRCh38)
21:31584402 (GRCh37)
Canonical SPDI:: NC_000021.9:30212083:G:A,NC_000021.9:30212083:G:T
Gene:: LINC00307 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000021.9:g.30212084G>A, NC_000021.9:g.30212084G>T, NC_000021.8:g.31584402G>A, NC_000021.8:g.31584402G>T, NG_050758.1:g.9068C>T, NG_050758.1:g.9068C>A

Select item 148807258312.

rs1488072583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30217769 (GRCh38)
21:31590087 (GRCh37)
Canonical SPDI:: NC_000021.9:30217768:G:A
Gene:: CLDN8 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000285/4 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000021.9:g.30217769G>A, NC_000021.8:g.31590087G>A, NG_050758.1:g.3383C>T

Select item 148783779113.

rs1487837791 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:30220150 (GRCh38)
21:31592468 (GRCh37)
Canonical SPDI:: NC_000021.9:30220149:T:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000546/1 (Korea1K)
HGVS:: NC_000021.9:g.30220150T>G, NC_000021.8:g.31592468T>G, NG_050758.1:g.1002A>C

Select item 148687162214.

rs1486871622 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGA>- [Show Flanks]
Chromosome:: 21:30215707 (GRCh38)
21:31588025 (GRCh37)
Canonical SPDI:: NC_000021.9:30215703:AGAAAGA:AGA
Gene:: CLDN8 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30215707_30215710del, NC_000021.8:g.31588025_31588028del, NG_050758.1:g.5445_5448del, NM_199328.3:c.219_222del, NM_199328.2:c.219_222del, NM_012132.3:c.219_222del, NM_012132.2:c.219_222del, NM_012132.1:c.219_222del, NP_955360.1:p.Ser74fs

Select item 148657749015.

rs1486577490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:30219647 (GRCh38)
21:31591965 (GRCh37)
Canonical SPDI:: NC_000021.9:30219646:C:G,NC_000021.9:30219646:C:T
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.30219647C>G, NC_000021.9:g.30219647C>T, NC_000021.8:g.31591965C>G, NC_000021.8:g.31591965C>T, NG_050758.1:g.1505G>C, NG_050758.1:g.1505G>A

Select item 148628165916.

rs1486281659 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30216538 (GRCh38)
21:31588856 (GRCh37)
Canonical SPDI:: NC_000021.9:30216537:G:A
Gene:: CLDN8 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000021.9:g.30216538G>A, NC_000021.8:g.31588856G>A, NG_050758.1:g.4614C>T

Select item 148481139217.

rs1484811392 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30219854 (GRCh38)
21:31592172 (GRCh37)
Canonical SPDI:: NC_000021.9:30219853:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000021.9:g.30219854A>G, NC_000021.8:g.31592172A>G, NG_050758.1:g.1298T>C

Select item 148476571718.

rs1484765717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30214750 (GRCh38)
21:31587068 (GRCh37)
Canonical SPDI:: NC_000021.9:30214749:G:A
Gene:: CLDN8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.30214750G>A, NC_000021.8:g.31587068G>A, NG_050758.1:g.6402C>T, NM_199328.3:c.*498C>T, NM_199328.2:c.*498C>T, NM_012132.3:c.*274C>T, NM_012132.2:c.*274C>T

Select item 148402187319.

rs1484021873 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:30220805 (GRCh38)
21:31593123 (GRCh37)
Canonical SPDI:: NC_000021.9:30220804:A:C
Validated:: by frequency,by alfa
MAF:: C=0.00014/2 (ALFA)
HGVS:: NC_000021.9:g.30220805A>C, NC_000021.8:g.31593123A>C, NG_050758.1:g.347T>G

Select item 148351022520.

rs1483510225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30213235 (GRCh38)
21:31585553 (GRCh37)
Canonical SPDI:: NC_000021.9:30213234:G:A
Gene:: LINC00307 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.30213235G>A, NC_000021.8:g.31585553G>A, NG_050758.1:g.7917C>T

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