SNP Links for Nucleotide (Select 296179406) - SNP

Links from Nucleotide

Items: 1 to 20 of 5267

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Select item 14915469121.

rs1491546912 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTCTTCCTCTTCCTC [Show Flanks]
Chromosome:: 2:113121087 (GRCh38)
2:113878665 (GRCh37)
Canonical SPDI:: NC_000002.12:113121087:TC:TCCTCTTCCTCTTCCTC
Gene:: IL1RN (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCCTCTTCCTCTTCCTC=0.00017/2 (ALFA)
TCCTCTTCCTCTTCC=0.00095/79 (GnomAD)
HGVS:: NC_000002.12:g.113121088_113121089TCCTCT[2]TCCTC[1], NC_000002.11:g.113878665_113878666TCCTCT[2]TCCTC[1], NG_021240.1:g.8196_8197TCCTCT[2]TCCTC[1]

Select item 14913405322.

rs1491340532 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 2:113124439 (GRCh38)
2:113882016 (GRCh37)
Canonical SPDI:: NC_000002.12:113124438:GC:
Gene:: IL1RN (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000009/1 (GnomAD)
HGVS:: NC_000002.12:g.113124439_113124440del, NC_000002.11:g.113882016_113882017del, NG_021240.1:g.11547_11548del

Select item 14909085243.

rs1490908524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113127667 (GRCh38)
2:113885244 (GRCh37)
Canonical SPDI:: NC_000002.12:113127666:C:T
Gene:: IL1RN (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.113127667C>T, NC_000002.11:g.113885244C>T, NG_021240.1:g.14775C>T, NM_173842.3:c.43C>T, NM_173842.2:c.43C>T, NP_776214.1:p.Leu15Phe

Select item 14908459724.

rs1490845972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:113120492 (GRCh38)
2:113878069 (GRCh37)
Canonical SPDI:: NC_000002.12:113120491:G:T
Gene:: IL1RN (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.113120492G>T, NC_000002.11:g.113878069G>T, NG_021240.1:g.7600G>T

Select item 14907702245.

rs1490770224 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:113126951 (GRCh38)
2:113884528 (GRCh37)
Canonical SPDI:: NC_000002.12:113126950:A:G
Gene:: IL1RN (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.113126951A>G, NC_000002.11:g.113884528A>G, NG_021240.1:g.14059A>G

Select item 14907517996.

rs1490751799 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113118795 (GRCh38)
2:113876372 (GRCh37)
Canonical SPDI:: NC_000002.12:113118794:G:A
Gene:: IL1RN (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.006667/4 (NorthernSweden)
HGVS:: NC_000002.12:g.113118795G>A, NC_000002.11:g.113876372G>A, NG_021240.1:g.5903G>A

Select item 14906852577.

rs1490685257 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>C
Chromosome:: no mapping
Canonical SPDI:

Select item 14906011088.

rs1490601108 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:113113953 (GRCh38)
2:113871530 (GRCh37)
Canonical SPDI:: NC_000002.12:113113952:T:C
Gene:: IL1RN (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.113113953T>C, NC_000002.11:g.113871530T>C, NG_021240.1:g.1061T>C

Select item 14905410479.

rs1490541047 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113129266 (GRCh38)
2:113886843 (GRCh37)
Canonical SPDI:: NC_000002.12:113129265:G:A
Gene:: IL1RN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.113129266G>A, NC_000002.11:g.113886843G>A, NG_021240.1:g.16374G>A

Select item 149032198510.

rs1490321985 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:113121584 (GRCh38)
2:113879161 (GRCh37)
Canonical SPDI:: NC_000002.12:113121583:T:C
Gene:: IL1RN (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.113121584T>C, NC_000002.11:g.113879161T>C, NG_021240.1:g.8692T>C, NM_173843.3:c.-73T>C, NM_173843.2:c.-73T>C, NM_001318914.2:c.-73T>C, NM_001318914.1:c.-73T>C, XM_011511121.2:c.-73T>C, XM_011511121.1:c.-73T>C, XM_047444184.1:c.-73T>C, XM_047444185.1:c.-73T>C, XM_047444186.1:c.-73T>C

Select item 149026190811.

rs1490261908 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:113117814 (GRCh38)
2:113875391 (GRCh37)
Canonical SPDI:: NC_000002.12:113117813:A:C,NC_000002.12:113117813:A:G
Gene:: IL1RN (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.113117814A>C, NC_000002.12:g.113117814A>G, NC_000002.11:g.113875391A>C, NC_000002.11:g.113875391A>G, NG_021240.1:g.4922A>C, NG_021240.1:g.4922A>G

Select item 149013806712.

rs1490138067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:113134670 (GRCh38)
2:113892247 (GRCh37)
Canonical SPDI:: NC_000002.12:113134669:C:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.113134670C>G, NC_000002.11:g.113892247C>G, NG_021240.1:g.21778C>G

Select item 148975671113.

rs1489756711 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:113128740 (GRCh38)
2:113886317 (GRCh37)
Canonical SPDI:: NC_000002.12:113128739:A:C
Gene:: IL1RN (Varview)
Functional Consequence:: intron_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_000002.12:g.113128740A>C, NC_000002.11:g.113886317A>C, NG_021240.1:g.15848A>C

Select item 148968547814.

rs1489685478 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:113128664 (GRCh38)
2:113886241 (GRCh37)
Canonical SPDI:: NC_000002.12:113128663:G:T
Gene:: IL1RN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.113128664G>T, NC_000002.11:g.113886241G>T, NG_021240.1:g.15772G>T

Select item 148965420615.

rs1489654206 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113125839 (GRCh38)
2:113883416 (GRCh37)
Canonical SPDI:: NC_000002.12:113125838:C:T
Gene:: IL1RN (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_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.113125839C>T, NC_000002.11:g.113883416C>T, NG_021240.1:g.12947C>T

Select item 148953929516.

rs1489539295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:113113862 (GRCh38)
2:113871439 (GRCh37)
Canonical SPDI:: NC_000002.12:113113861:C:G
Gene:: IL1RN (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.113113862C>G, NC_000002.11:g.113871439C>G, NG_021240.1:g.970C>G

Select item 148950390217.

rs1489503902 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:113133497 (GRCh38)
2:113891074 (GRCh37)
Canonical SPDI:: NC_000002.12:113133496:T:A
Gene:: IL1RN (Varview)
Functional Consequence:: 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)
HGVS:: NC_000002.12:g.113133497T>A, NC_000002.11:g.113891074T>A, NG_021240.1:g.20605T>A, NM_000577.5:c.*626T>A, NM_000577.4:c.*626T>A, NM_173843.3:c.*626T>A, NM_173843.2:c.*626T>A, NM_173841.3:c.*626T>A, NM_173841.2:c.*626T>A, NM_173842.3:c.*626T>A, NM_173842.2:c.*626T>A, NM_001318914.2:c.*626T>A, NM_001318914.1:c.*626T>A, NM_001379360.1:c.*626T>A, XM_011511121.2:c.*626T>A, XM_011511121.1:c.*626T>A, XM_047444184.1:c.*626T>A, XM_047444185.1:c.*626T>A, XM_047444186.1:c.*626T>A

Select item 148939695018.

rs1489396950 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113114812 (GRCh38)
2:113872389 (GRCh37)
Canonical SPDI:: NC_000002.12:113114811:G:A
Gene:: IL1RN (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.113114812G>A, NC_000002.11:g.113872389G>A, NG_021240.1:g.1920G>A

Select item 148936236019.

rs1489362360 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAT>- [Show Flanks]
Chromosome:: 2:113129119 (GRCh38)
2:113886696 (GRCh37)
Canonical SPDI:: NC_000002.12:113129117:TAAAT:T
Gene:: IL1RN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113129119_113129122del, NC_000002.11:g.113886696_113886699del, NG_021240.1:g.16227_16230del

Select item 148924703720.

rs1489247037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:113122164 (GRCh38)
2:113879741 (GRCh37)
Canonical SPDI:: NC_000002.12:113122163:C:A,NC_000002.12:113122163:C:G,NC_000002.12:113122163:C:T
Gene:: IL1RN (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.113122164C>A, NC_000002.12:g.113122164C>G, NC_000002.12:g.113122164C>T, NC_000002.11:g.113879741C>A, NC_000002.11:g.113879741C>G, NC_000002.11:g.113879741C>T, NG_021240.1:g.9272C>A, NG_021240.1:g.9272C>G, NG_021240.1:g.9272C>T

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