SNP Links for Nucleotide (Select 359465593) - SNP

Links from Nucleotide

Items: 1 to 20 of 2990

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Select item 14906670631.

rs1490667063 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:113056532 (GRCh38)
2:113814109 (GRCh37)
Canonical SPDI:: NC_000002.12:113056531:C:A,NC_000002.12:113056531:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.113056532C>A, NC_000002.12:g.113056532C>T, NC_000002.11:g.113814109C>A, NC_000002.11:g.113814109C>T, NG_031864.1:g.2895C>A, NG_031864.1:g.2895C>T

Select item 14906210262.

rs1490621026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113058735 (GRCh38)
2:113816312 (GRCh37)
Canonical SPDI:: NC_000002.12:113058734:G:A
Gene:: IL36RN (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.113058735G>A, NC_000002.11:g.113816312G>A, NG_031864.1:g.5098G>A, NM_173170.1:c.-36G>A, XM_047443918.1:c.-145G>A

Select item 14903431763.

rs1490343176 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113054580 (GRCh38)
2:113812157 (GRCh37)
Canonical SPDI:: NC_000002.12:113054579:C:T
Gene:: IL36B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.113054580C>T, NC_000002.11:g.113812157C>T, NG_031864.1:g.943C>T

Select item 14903331624.

rs1490333162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:113055558 (GRCh38)
2:113813135 (GRCh37)
Canonical SPDI:: NC_000002.12:113055557:C:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113055558C>G, NC_000002.11:g.113813135C>G, NG_031864.1:g.1921C>G

Select item 14897295685.

rs1489729568 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:113063680 (GRCh38)
2:113821257 (GRCh37)
Canonical SPDI:: NC_000002.12:113063679:A:T
Gene:: IL36RN (Varview)
Functional Consequence:: 3_prime_UTR_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_000002.12:g.113063680A>T, NC_000002.11:g.113821257A>T, NG_031864.1:g.10043A>T, NM_012275.3:c.*1003A>T, NM_012275.2:c.*1003A>T, NM_173170.1:c.*1003A>T, XM_047443918.1:c.*1003A>T

Select item 14896735486.

rs1489673548 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113063559 (GRCh38)
2:113821136 (GRCh37)
Canonical SPDI:: NC_000002.12:113063558:C:T
Gene:: IL36RN (Varview)
Functional Consequence:: 3_prime_UTR_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_000002.12:g.113063559C>T, NC_000002.11:g.113821136C>T, NG_031864.1:g.9922C>T, NM_012275.3:c.*882C>T, NM_012275.2:c.*882C>T, NM_173170.1:c.*882C>T, XM_047443918.1:c.*882C>T

Select item 14896226287.

rs1489622628 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113062539 (GRCh38)
2:113820116 (GRCh37)
Canonical SPDI:: NC_000002.12:113062538:C:T
Gene:: IL36RN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.113062539C>T, NC_000002.11:g.113820116C>T, NG_031864.1:g.8902C>T, NM_012275.3:c.330C>T, NM_012275.2:c.330C>T, NM_173170.1:c.330C>T, XM_047443918.1:c.330C>T

Select item 14893436558.

rs1489343655 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:113064058 (GRCh38)
2:113821635 (GRCh37)
Canonical SPDI:: NC_000002.12:113064057:A:G
Gene:: IL36RN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113064058A>G, NC_000002.11:g.113821635A>G, NG_031864.1:g.10421A>G, NM_012275.3:c.*1381A>G, NM_012275.2:c.*1381A>G, NM_173170.1:c.*1381A>G, XM_047443918.1:c.*1381A>G

Select item 14893034479.

rs1489303447 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113059766 (GRCh38)
2:113817343 (GRCh37)
Canonical SPDI:: NC_000002.12:113059765:G:A
Gene:: IL36RN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.113059766G>A, NC_000002.11:g.113817343G>A, NG_031864.1:g.6129G>A

Select item 148929318810.

rs1489293188 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:113062960 (GRCh38)
2:113820537 (GRCh37)
Canonical SPDI:: NC_000002.12:113062959:G:T
Gene:: IL36RN (Varview)
Functional Consequence:: 3_prime_UTR_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_000002.12:g.113062960G>T, NC_000002.11:g.113820537G>T, NG_031864.1:g.9323G>T, NM_012275.3:c.*283G>T, NM_012275.2:c.*283G>T, NM_173170.1:c.*283G>T, XM_047443918.1:c.*283G>T

Select item 148926280611.

rs1489262806 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113059468 (GRCh38)
2:113817045 (GRCh37)
Canonical SPDI:: NC_000002.12:113059467:G:A
Gene:: IL36RN (Varview)
Functional Consequence:: splice_donor_variant
Clinical significance:: likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.113059468G>A, NC_000002.11:g.113817045G>A, NG_031864.1:g.5831G>A

Select item 148922596512.

rs1489225965 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:113055075 (GRCh38)
2:113812652 (GRCh37)
Canonical SPDI:: NC_000002.12:113055074:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113055075A>G, NC_000002.11:g.113812652A>G, NG_031864.1:g.1438A>G

Select item 148889631313.

rs1488896313 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:113055455 (GRCh38)
2:113813032 (GRCh37)
Canonical SPDI:: NC_000002.12:113055454:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.113055455A>G, NC_000002.11:g.113813032A>G, NG_031864.1:g.1818A>G

Select item 148880253014.

rs1488802530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113062530 (GRCh38)
2:113820107 (GRCh37)
Canonical SPDI:: NC_000002.12:113062529:C:T
Gene:: IL36RN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.113062530C>T, NC_000002.11:g.113820107C>T, NG_031864.1:g.8893C>T, NM_012275.3:c.321C>T, NM_012275.2:c.321C>T, NM_173170.1:c.321C>T, XM_047443918.1:c.321C>T

Select item 148877643015.

rs1488776430 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113055189 (GRCh38)
2:113812766 (GRCh37)
Canonical SPDI:: NC_000002.12:113055188:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.113055189G>A, NC_000002.11:g.113812766G>A, NG_031864.1:g.1552G>A

Select item 148856010316.

rs1488560103 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 2:113053688 (GRCh38)
2:113811265 (GRCh37)
Canonical SPDI:: NC_000002.12:113053687:AAAAAAA:AAAAAA
Gene:: IL36B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.00005/7 (GnomAD)
-=0.000053/14 (TOPMED)
HGVS:: NC_000002.12:g.113053694del, NC_000002.11:g.113811271del, NG_031864.1:g.57del

Select item 148823013917.

rs1488230139 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113062221 (GRCh38)
2:113819798 (GRCh37)
Canonical SPDI:: NC_000002.12:113062220:G:A
Gene:: IL36RN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.113062221G>A, NC_000002.11:g.113819798G>A, NG_031864.1:g.8584G>A, NM_012275.3:c.213G>A, NM_012275.2:c.213G>A, NM_173170.1:c.213G>A, XM_047443918.1:c.213G>A

Select item 148814986418.

rs1488149864 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:113064951 (GRCh38)
2:113822528 (GRCh37)
Canonical SPDI:: NC_000002.12:113064950:A:G
Gene:: IL36RN (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000156/1 (1000Genomes)
G=0.00463/1 (Vietnamese)
HGVS:: NC_000002.12:g.113064951A>G, NC_000002.11:g.113822528A>G, NG_031864.1:g.11314A>G

Select item 148775351219.

rs1487753512 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:113064607 (GRCh38)
2:113822184 (GRCh37)
Canonical SPDI:: NC_000002.12:113064606:G:A,NC_000002.12:113064606:G:T
Gene:: IL36RN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.113064607G>A, NC_000002.12:g.113064607G>T, NC_000002.11:g.113822184G>A, NC_000002.11:g.113822184G>T, NG_031864.1:g.10970G>A, NG_031864.1:g.10970G>T, NM_012275.3:c.*1930G>A, NM_012275.3:c.*1930G>T, NM_012275.2:c.*1930G>A, NM_012275.2:c.*1930G>T, NM_173170.1:c.*1930G>A, NM_173170.1:c.*1930G>T, XM_047443918.1:c.*1930G>A, XM_047443918.1:c.*1930G>T

Select item 148765648320.

rs1487656483 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 2:113063402 (GRCh38)
2:113820979 (GRCh37)
Canonical SPDI:: NC_000002.12:113063401:T:
Gene:: IL36RN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.113063402del, NC_000002.11:g.113820979del, NG_031864.1:g.9765del, NM_012275.3:c.*725del, NM_012275.2:c.*725del, NM_173170.1:c.*725del, XM_047443918.1:c.*725del

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