SNP Links for Nucleotide (Select 686223166) - SNP

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Links from Nucleotide

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Select item 14908683761.

rs1490868376 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:6942869 (GRCh38)
12:7052032 (GRCh37)
Canonical SPDI:: NC_000012.12:6942868:A:G
Gene:: C12orf57 (Varview), RNU7-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.6942869A>G, NW_003871083.2:g.144452A>G, NG_008047.1:g.23407A>G, NG_034262.1:g.4053A>G, NC_000012.11:g.7052032A>G

Select item 14907956352.

rs1490795635 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 12:6945259 (GRCh38)
12:7054422 (GRCh37)
Canonical SPDI:: NC_000012.12:6945258:C:A,NC_000012.12:6945258:C:G,NC_000012.12:6945258:C:T
Gene:: PTPN6 (Varview), C12orf57 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.6945259C>A, NC_000012.12:g.6945259C>G, NC_000012.12:g.6945259C>T, NW_003871083.2:g.146842C>A, NW_003871083.2:g.146842C>G, NW_003871083.2:g.146842C>T, NG_034262.1:g.6443C>A, NG_034262.1:g.6443C>G, NG_034262.1:g.6443C>T, NC_000012.11:g.7054422C>A, NC_000012.11:g.7054422C>G, NC_000012.11:g.7054422C>T

Select item 14903787883.

rs1490378788 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 12:6942540 (GRCh38)
12:7051703 (GRCh37)
Canonical SPDI:: NC_000012.12:6942539:C:A,NC_000012.12:6942539:C:G,NC_000012.12:6942539:C:T
Gene:: ATN1 (Varview), C12orf57 (Varview), RNU7-1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.6942540C>A, NC_000012.12:g.6942540C>G, NC_000012.12:g.6942540C>T, NW_003871083.2:g.144123C>A, NW_003871083.2:g.144123C>G, NW_003871083.2:g.144123C>T, NG_008047.1:g.23078C>A, NG_008047.1:g.23078C>G, NG_008047.1:g.23078C>T, NG_034262.1:g.3724C>A, NG_034262.1:g.3724C>G, NG_034262.1:g.3724C>T, NC_000012.11:g.7051703C>A, NC_000012.11:g.7051703C>G, NC_000012.11:g.7051703C>T

Select item 14903059384.

rs1490305938 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:6944834 (GRCh38)
12:7053997 (GRCh37)
Canonical SPDI:: NC_000012.12:6944833:T:C
Gene:: PTPN6 (Varview), C12orf57 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.6944834T>C, NW_003871083.2:g.146417T>C, NG_034262.1:g.6018T>C, NC_000012.11:g.7053997T>C

Select item 14899346025.

rs1489934602 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:6941135 (GRCh38)
12:7050298 (GRCh37)
Canonical SPDI:: NC_000012.12:6941134:A:G
Gene:: ATN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.6941135A>G, NW_003871083.2:g.142718A>G, NG_008047.1:g.21673A>G, NG_034262.1:g.2319A>G, NC_000012.11:g.7050298A>G

Select item 14898892406.

rs1489889240 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:6942184 (GRCh38)
12:7051347 (GRCh37)
Canonical SPDI:: NC_000012.12:6942183:G:A,NC_000012.12:6942183:G:C
Gene:: ATN1 (Varview), C12orf57 (Varview), RNU7-1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
A=0.000022/3 (GnomAD)
HGVS:: NC_000012.12:g.6942184G>A, NC_000012.12:g.6942184G>C, NW_003871083.2:g.143767G>A, NW_003871083.2:g.143767G>C, NG_008047.1:g.22722G>A, NG_008047.1:g.22722G>C, NM_001940.4:c.*404G>A, NM_001940.4:c.*404G>C, NM_001940.3:c.*404G>A, NM_001940.3:c.*404G>C, NM_001007026.2:c.*404G>A, NM_001007026.2:c.*404G>C, NM_001007026.1:c.*404G>A, NM_001007026.1:c.*404G>C, NG_034262.1:g.3368G>A, NG_034262.1:g.3368G>C, NC_000012.11:g.7051347G>A, NC_000012.11:g.7051347G>C

Select item 14891699327.

rs1489169932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6947617 (GRCh38)
12:7056780 (GRCh37)
Canonical SPDI:: NC_000012.12:6947616:G:A
Gene:: PTPN6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000015/2 (GnomAD)
HGVS:: NC_000012.12:g.6947617G>A, NW_003871083.2:g.149200G>A, NG_034262.1:g.8801G>A, NC_000012.11:g.7056780G>A

Select item 14890992268.

rs1489099226 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:6940468 (GRCh38)
12:7049631 (GRCh37)
Canonical SPDI:: NC_000012.12:6940467:A:G,NC_000012.12:6940467:A:T
Gene:: ATN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.6940468A>G, NC_000012.12:g.6940468A>T, NW_003871083.2:g.142051A>G, NW_003871083.2:g.142051A>T, NG_008047.1:g.21006A>G, NG_008047.1:g.21006A>T, NG_034262.1:g.1652A>G, NG_034262.1:g.1652A>T, NC_000012.11:g.7049631A>G, NC_000012.11:g.7049631A>T

Select item 14888970939.

rs1488897093 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6944293 (GRCh38)
12:7053456 (GRCh37)
Canonical SPDI:: NC_000012.12:6944292:G:A
Gene:: C12orf57 (Varview), RNU7-1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6944293G>A, NW_003871083.2:g.145876G>A, NG_008047.1:g.24831G>A, NG_034262.1:g.5477G>A, NC_000012.11:g.7053456G>A

Select item 148873137110.

rs1488731371 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6939632 (GRCh38)
12:7048795 (GRCh37)
Canonical SPDI:: NC_000012.12:6939631:G:A
Gene:: ATN1 (Varview)
Functional Consequence:: intron_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_000012.12:g.6939632G>A, NW_003871083.2:g.141215G>A, NG_008047.1:g.20170G>A, NG_034262.1:g.816G>A, NC_000012.11:g.7048795G>A

Select item 148825345611.

rs1488253456 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:6946537 (GRCh38)
12:7055700 (GRCh37)
Canonical SPDI:: NC_000012.12:6946536:T:C
Gene:: PTPN6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000012.12:g.6946537T>C, NW_003871083.2:g.148120T>C, NG_034262.1:g.7721T>C, NC_000012.11:g.7055700T>C

Select item 148817925912.

rs1488179259 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 12:6939261 (GRCh38)
12:7048425 (GRCh37)
Canonical SPDI:: NC_000012.12:6939261:CT:CTCT
Gene:: ATN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
CT=0.000007/1 (GnomAD)
CT=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.6939262_6939263dup, NW_003871083.2:g.140845_140846dup, NG_008047.1:g.19800_19801dup, NG_034262.1:g.446_447dup, NC_000012.11:g.7048425_7048426dup

Select item 148815352813.

rs1488153528 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6942891 (GRCh38)
12:7052054 (GRCh37)
Canonical SPDI:: NC_000012.12:6942890:C:T
Gene:: C12orf57 (Varview), RNU7-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,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_000012.12:g.6942891C>T, NW_003871083.2:g.144474C>T, NG_008047.1:g.23429C>T, NG_034262.1:g.4075C>T, NC_000012.11:g.7052054C>T

Select item 148810222514.

rs1488102225 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6943689 (GRCh38)
12:7052852 (GRCh37)
Canonical SPDI:: NC_000012.12:6943688:C:T
Gene:: C12orf57 (Varview), RNU7-1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000012.12:g.6943689C>T, NW_003871083.2:g.145272C>T, NG_008047.1:g.24227C>T, NG_034262.1:g.4873C>T, NC_000012.11:g.7052852C>T

Select item 148805508515.

rs1488055085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6940132 (GRCh38)
12:7049295 (GRCh37)
Canonical SPDI:: NC_000012.12:6940131:C:T
Gene:: ATN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6940132C>T, NW_003871083.2:g.141715C>T, NG_008047.1:g.20670C>T, NG_034262.1:g.1316C>T, NC_000012.11:g.7049295C>T

Select item 148790068316.

rs1487900683 [Homo sapiens]

Variant type:: DEL
Alleles:: TCCCAGGGGCGTTGGGA>- [Show Flanks]
Chromosome:: 12:6944031 (GRCh38)
12:7053194 (GRCh37)
Canonical SPDI:: NC_000012.12:6944030:TCCCAGGGGCGTTGGGA:
Gene:: C12orf57 (Varview), RNU7-1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,5_prime_UTR_variant,downstream_transcript_variant,non_coding_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.6944031_6944047del, NW_003871083.2:g.145614_145630del, NG_008047.1:g.24569_24585del, NG_034262.1:g.5215_5231del, NM_138425.4:c.-91_-75del, NM_138425.3:c.-91_-75del, NM_138425.2:c.*4294966833_-82insTCCCAGGGG, NM_138425.2:c.-82_-75del, NM_001301838.2:c.-292_-276del, NM_001301838.1:c.-292_-276del, NR_126035.2:n.10_26del, NR_126035.1:n.215_231del, NM_001301837.2:c.-91_-75del, NM_001301837.1:c.-91_-75del, NC_000012.11:g.7053194_7053210del

Select item 148769309017.

rs1487693090 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6940057 (GRCh38)
12:7049220 (GRCh37)
Canonical SPDI:: NC_000012.12:6940056:C:T
Gene:: ATN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.6940057C>T, NW_003871083.2:g.141640C>T, NG_008047.1:g.20595C>T, NG_034262.1:g.1241C>T, NC_000012.11:g.7049220C>T

Select item 148673720818.

rs1486737208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:6939718 (GRCh38)
12:7048881 (GRCh37)
Canonical SPDI:: NC_000012.12:6939717:G:T
Gene:: ATN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.6939718G>T, NW_003871083.2:g.141301G>T, NG_008047.1:g.20256G>T, NG_034262.1:g.902G>T, NC_000012.11:g.7048881G>T

Select item 148652836819.

rs1486528368 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:6942593 (GRCh38)
12:7051757 (GRCh37)
Canonical SPDI:: NC_000012.12:6942593:GGG:GGGG
Gene:: ATN1 (Varview), C12orf57 (Varview), RNU7-1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6942596dup, NW_003871083.2:g.144179dup, NG_008047.1:g.23134dup, NG_034262.1:g.3780dup, NC_000012.11:g.7051759dup

Select item 148633365020.

rs1486333650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6944955 (GRCh38)
12:7054118 (GRCh37)
Canonical SPDI:: NC_000012.12:6944954:C:T
Gene:: PTPN6 (Varview), C12orf57 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,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_000012.12:g.6944955C>T, NW_003871083.2:g.146538C>T, NG_034262.1:g.6139C>T, NC_000012.11:g.7054118C>T

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