SNP Links for Nucleotide (Select 378548186) - SNP

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Links from Nucleotide

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Select item 14882237831.

rs1488223783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:10541495 (GRCh38)
11:10563042 (GRCh37)
Canonical SPDI:: NC_000011.10:10541494:C:G,NC_000011.10:10541494:C:T
Gene:: RNF141 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.10541495C>G, NC_000011.10:g.10541495C>T, NC_000011.9:g.10563042C>G, NC_000011.9:g.10563042C>T, NR_034093.2:n.260C>G, NR_034093.2:n.260C>T, NR_034094.2:n.260C>G, NR_034094.2:n.260C>T, NR_046374.1:n.260C>G, NR_046374.1:n.260C>T, NR_046375.1:n.260C>G, NR_046375.1:n.260C>T

Select item 14862792532.

rs1486279253 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:10541303 (GRCh38)
11:10562850 (GRCh37)
Canonical SPDI:: NC_000011.10:10541302:C:T
Gene:: RNF141 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.10541303C>T, NC_000011.9:g.10562850C>T, NR_034093.2:n.68C>T, NR_034094.2:n.68C>T, NR_046374.1:n.68C>T, NR_046375.1:n.68C>T

Select item 14738057973.

rs1473805797 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:10541301 (GRCh38)
11:10562848 (GRCh37)
Canonical SPDI:: NC_000011.10:10541300:A:G
Gene:: RNF141 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_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_000011.10:g.10541301A>G, NC_000011.9:g.10562848A>G, NR_034093.2:n.66A>G, NR_034094.2:n.66A>G, NR_046374.1:n.66A>G, NR_046375.1:n.66A>G

Select item 14724057754.

rs1472405775 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:10599918 (GRCh38)
11:10621465 (GRCh37)
Canonical SPDI:: NC_000011.10:10599917:T:C
Gene:: IRAG1 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.10599918T>C, NC_000011.9:g.10621465T>C, NR_034093.2:n.647T>C, NR_034094.2:n.609T>C, NR_046374.1:n.886T>C, NR_046375.1:n.786T>C

Select item 14691036765.

rs1469103676 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:10599899 (GRCh38)
11:10621446 (GRCh37)
Canonical SPDI:: NC_000011.10:10599898:A:G
Gene:: IRAG1 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_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_000011.10:g.10599899A>G, NC_000011.9:g.10621446A>G, NR_034093.2:n.628A>G, NR_034094.2:n.590A>G, NR_046374.1:n.867A>G, NR_046375.1:n.767A>G

Select item 14659863036.

rs1465986303 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:10541535 (GRCh38)
11:10563082 (GRCh37)
Canonical SPDI:: NC_000011.10:10541534:G:T
Gene:: RNF141 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.10541535G>T, NC_000011.9:g.10563082G>T, NR_034093.2:n.300G>T, NR_034094.2:n.300G>T, NR_046374.1:n.300G>T, NR_046375.1:n.300G>T

Select item 14567617517.

rs1456761751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:10541305 (GRCh38)
11:10562852 (GRCh37)
Canonical SPDI:: NC_000011.10:10541304:G:A
Gene:: RNF141 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.10541305G>A, NC_000011.9:g.10562852G>A, NR_034093.2:n.70G>A, NR_034094.2:n.70G>A, NR_046374.1:n.70G>A, NR_046375.1:n.70G>A

Select item 14559908648.

rs1455990864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:10541354 (GRCh38)
11:10562901 (GRCh37)
Canonical SPDI:: NC_000011.10:10541353:G:A
Gene:: RNF141 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.10541354G>A, NC_000011.9:g.10562901G>A, NR_034093.2:n.119G>A, NR_034094.2:n.119G>A, NR_046374.1:n.119G>A, NR_046375.1:n.119G>A

Select item 14541573639.

rs1454157363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:10541470 (GRCh38)
11:10563017 (GRCh37)
Canonical SPDI:: NC_000011.10:10541469:G:A
Gene:: RNF141 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000011.10:g.10541470G>A, NC_000011.9:g.10563017G>A, NR_034093.2:n.235G>A, NR_034094.2:n.235G>A, NR_046374.1:n.235G>A, NR_046375.1:n.235G>A

Select item 145158126610.

rs1451581266 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:10599723 (GRCh38)
11:10621270 (GRCh37)
Canonical SPDI:: NC_000011.10:10599722:T:A,NC_000011.10:10599722:T:C
Gene:: IRAG1 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.10599723T>A, NC_000011.10:g.10599723T>C, NC_000011.9:g.10621270T>A, NC_000011.9:g.10621270T>C, NR_034093.2:n.452T>A, NR_034093.2:n.452T>C, NR_046374.1:n.691T>A, NR_046374.1:n.691T>C, NR_046375.1:n.591T>A, NR_046375.1:n.591T>C

Select item 145044369011.

rs1450443690 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:10594201 (GRCh38)
11:10615748 (GRCh37)
Canonical SPDI:: NC_000011.10:10594200:G:A
Gene:: IRAG1 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.10594201G>A, NC_000011.9:g.10615748G>A, NR_034093.2:n.392G>A, NR_034094.2:n.392G>A, NR_046374.1:n.631G>A, NR_046375.1:n.531G>A

Select item 144131723212.

rs1441317232 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:10599842 (GRCh38)
11:10621389 (GRCh37)
Canonical SPDI:: NC_000011.10:10599841:A:C
Gene:: IRAG1 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000043/6 (GnomAD)
C=0.000049/13 (TOPMED)
HGVS:: NC_000011.10:g.10599842A>C, NC_000011.9:g.10621389A>C, NR_034093.2:n.571A>C, NR_034094.2:n.533A>C, NR_046374.1:n.810A>C, NR_046375.1:n.710A>C

Select item 143889335113.

rs1438893351 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:10541431 (GRCh38)
11:10562978 (GRCh37)
Canonical SPDI:: NC_000011.10:10541430:C:G
Gene:: RNF141 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.10541431C>G, NC_000011.9:g.10562978C>G, NR_034093.2:n.196C>G, NR_034094.2:n.196C>G, NR_046374.1:n.196C>G, NR_046375.1:n.196C>G

Select item 143266600414.

rs1432666004 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:10541324 (GRCh38)
11:10562871 (GRCh37)
Canonical SPDI:: NC_000011.10:10541323:G:A
Gene:: RNF141 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.10541324G>A, NC_000011.9:g.10562871G>A, NR_034093.2:n.89G>A, NR_034094.2:n.89G>A, NR_046374.1:n.89G>A, NR_046375.1:n.89G>A

Select item 142704134515.

rs1427041345 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:10599890 (GRCh38)
11:10621437 (GRCh37)
Canonical SPDI:: NC_000011.10:10599889:A:C
Gene:: IRAG1 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.10599890A>C, NC_000011.9:g.10621437A>C, NR_034093.2:n.619A>C, NR_034094.2:n.581A>C, NR_046374.1:n.858A>C, NR_046375.1:n.758A>C

Select item 141845430416.

rs1418454304 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:10599700 (GRCh38)
11:10621247 (GRCh37)
Canonical SPDI:: NC_000011.10:10599699:T:C
Gene:: IRAG1 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000011.10:g.10599700T>C, NC_000011.9:g.10621247T>C, NR_034093.2:n.429T>C, NR_046374.1:n.668T>C, NR_046375.1:n.568T>C

Select item 141698915717.

rs1416989157 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:10594182 (GRCh38)
11:10615729 (GRCh37)
Canonical SPDI:: NC_000011.10:10594181:A:G
Gene:: IRAG1 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_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_000011.10:g.10594182A>G, NC_000011.9:g.10615729A>G, NM_130385.4:c.2031T>C, NM_130385.3:c.2031T>C, NM_001100163.3:c.1758T>C, NM_001100163.2:c.1758T>C, NM_001098579.3:c.2007T>C, NM_001098579.2:c.2007T>C, NM_001100167.3:c.1086T>C, NM_001100167.2:c.1086T>C, NM_001206881.2:c.1086T>C, NM_001206881.1:c.1086T>C, NM_001206880.2:c.1413T>C, NM_001206880.1:c.1413T>C, NM_006069.2:c.1971T>C, NR_034093.2:n.373A>G, NR_034094.2:n.373A>G, NR_046374.1:n.612A>G, NR_046375.1:n.512A>G, NM_006069.1:c.1971T>C

Select item 141396144718.

rs1413961447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:10599778 (GRCh38)
11:10621325 (GRCh37)
Canonical SPDI:: NC_000011.10:10599777:C:G
Gene:: IRAG1 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.10599778C>G, NC_000011.9:g.10621325C>G, NR_034093.2:n.507C>G, NR_034094.2:n.469C>G, NR_046374.1:n.746C>G, NR_046375.1:n.646C>G

Select item 140566598219.

rs1405665982 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:10594125 (GRCh38)
11:10615672 (GRCh37)
Canonical SPDI:: NC_000011.10:10594124:G:A
Gene:: IRAG1 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.10594125G>A, NC_000011.9:g.10615672G>A, NR_034093.2:n.316G>A, NR_034094.2:n.316G>A, NR_046374.1:n.555G>A, NR_046375.1:n.455G>A

Select item 140277808220.

rs1402778082 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 11:10541538 (GRCh38)
11:10563085 (GRCh37)
Canonical SPDI:: NC_000011.10:10541537:CC:C
Gene:: RNF141 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.10541539del, NC_000011.9:g.10563086del, NR_034093.2:n.304del, NR_034094.2:n.304del, NR_046374.1:n.304del, NR_046375.1:n.304del