SNP Links for Nucleotide (Select 1154491911) - SNP

Links from Nucleotide

Items: 1 to 20 of 3122

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Select item 14911436001.

rs1491143600 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:81441558 (GRCh38)
8:82353793 (GRCh37)
Canonical SPDI:: NC_000008.11:81441556:TCT:T
Gene:: PMP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000015/2 (GnomAD)
-=0.000248/4 (TOMMO)
HGVS:: NC_000008.11:g.81441558_81441559del, NC_000008.10:g.82353793_82353794del, NG_052979.1:g.10966_10967del, NM_002677.5:c.*1840_*1841del, NM_002677.4:c.*1840_*1841del, NM_002677.3:c.*1840_*1841del, NM_001348381.2:c.*1883_*1884del, NM_001348381.1:c.*1883_*1884del

Select item 14908569152.

rs1490856915 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:81449392 (GRCh38)
8:82361627 (GRCh37)
Canonical SPDI:: NC_000008.11:81449391:G:T
Gene:: PMP2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.81449392G>T, NC_000008.10:g.82361627G>T, NG_052979.1:g.3132C>A

Select item 14908370293.

rs1490837029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:81447875 (GRCh38)
8:82360110 (GRCh37)
Canonical SPDI:: NC_000008.11:81447874:G:A
Gene:: PMP2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000008.11:g.81447875G>A, NC_000008.10:g.82360110G>A, NG_052979.1:g.4649C>T

Select item 14908255654.

rs1490825565 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:81440832 (GRCh38)
8:82353067 (GRCh37)
Canonical SPDI:: NC_000008.11:81440831:C:A,NC_000008.11:81440831:C:T
Gene:: PMP2 (Varview)
Functional Consequence:: 3_prime_UTR_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_000008.11:g.81440832C>A, NC_000008.11:g.81440832C>T, NC_000008.10:g.82353067C>A, NC_000008.10:g.82353067C>T, NG_052979.1:g.11692G>T, NG_052979.1:g.11692G>A, NM_002677.5:c.*2566G>T, NM_002677.5:c.*2566G>A, NM_002677.4:c.*2566G>T, NM_002677.4:c.*2566G>A, NM_002677.3:c.*2566G>T, NM_002677.3:c.*2566G>A, NM_001348381.2:c.*2609G>T, NM_001348381.2:c.*2609G>A, NM_001348381.1:c.*2609G>T, NM_001348381.1:c.*2609G>A

Select item 14907714855.

rs1490771485 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:81442471 (GRCh38)
8:82354706 (GRCh37)
Canonical SPDI:: NC_000008.11:81442470:A:G
Gene:: PMP2 (Varview)
Functional Consequence:: 3_prime_UTR_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_000008.11:g.81442471A>G, NC_000008.10:g.82354706A>G, NG_052979.1:g.10053T>C, NM_002677.5:c.*927T>C, NM_002677.4:c.*927T>C, NM_002677.3:c.*927T>C, NM_001348381.2:c.*970T>C, NM_001348381.1:c.*970T>C

Select item 14906638486.

rs1490663848 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:81440373 (GRCh38)
8:82352608 (GRCh37)
Canonical SPDI:: NC_000008.11:81440372:A:G
Gene:: PMP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.81440373A>G, NC_000008.10:g.82352608A>G, NG_052979.1:g.12151T>C, NM_002677.5:c.*3025T>C, NM_002677.4:c.*3025T>C, NM_002677.3:c.*3025T>C, NM_001348381.2:c.*3068T>C, NM_001348381.1:c.*3068T>C

Select item 14898464327.

rs1489846432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 8:81439955 (GRCh38)
8:82352190 (GRCh37)
Canonical SPDI:: NC_000008.11:81439954:G:C,NC_000008.11:81439954:G:T
Gene:: PMP2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.81439955G>C, NC_000008.11:g.81439955G>T, NC_000008.10:g.82352190G>C, NC_000008.10:g.82352190G>T, NG_052979.1:g.12569C>G, NG_052979.1:g.12569C>A

Select item 14896534018.

rs1489653401 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:81451689 (GRCh38)
8:82363924 (GRCh37)
Canonical SPDI:: NC_000008.11:81451688:A:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.81451689A>T, NC_000008.10:g.82363924A>T, NG_052979.1:g.835T>A

Select item 14895101339.

rs1489510133 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:81445409 (GRCh38)
8:82357644 (GRCh37)
Canonical SPDI:: NC_000008.11:81445408:G:C
Gene:: PMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.81445409G>C, NC_000008.10:g.82357644G>C, NG_052979.1:g.7115C>G

Select item 148881694410.

rs1488816944 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:81445822 (GRCh38)
8:82358057 (GRCh37)
Canonical SPDI:: NC_000008.11:81445821:C:G
Gene:: PMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.81445822C>G, NC_000008.10:g.82358057C>G, NG_052979.1:g.6702G>C

Select item 148832114211.

rs1488321142 [Homo sapiens]

Variant type:: DEL
Alleles:: TGTT>- [Show Flanks]
Chromosome:: 8:81446875 (GRCh38)
8:82359110 (GRCh37)
Canonical SPDI:: NC_000008.11:81446874:TGTT:
Gene:: PMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.81446875_81446878del, NC_000008.10:g.82359110_82359113del, NG_052979.1:g.5646_5649del

Select item 148811754312.

rs1488117543 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 8:81450038 (GRCh38)
8:82362273 (GRCh37)
Canonical SPDI:: NC_000008.11:81450037:C:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.81450038del, NC_000008.10:g.82362273del, NG_052979.1:g.2486del

Select item 148810341713.

rs1488103417 [Homo sapiens]

Variant type:: DELINS
Alleles:: GACTT>- [Show Flanks]
Chromosome:: 8:81446434 (GRCh38)
8:82358669 (GRCh37)
Canonical SPDI:: NC_000008.11:81446432:TGACTT:T
Gene:: PMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.00003/8 (TOPMED)
HGVS:: NC_000008.11:g.81446434_81446438del, NC_000008.10:g.82358669_82358673del, NG_052979.1:g.6087_6091del

Select item 148802987814.

rs1488029878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 8:81439604 (GRCh38)
8:82351839 (GRCh37)
Canonical SPDI:: NC_000008.11:81439603:G:C,NC_000008.11:81439603:G:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.81439604G>C, NC_000008.11:g.81439604G>T, NC_000008.10:g.82351839G>C, NC_000008.10:g.82351839G>T, NG_052979.1:g.12920C>G, NG_052979.1:g.12920C>A

Select item 148793059215.

rs1487930592 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:81438931 (GRCh38)
8:82351166 (GRCh37)
Canonical SPDI:: NC_000008.11:81438930:G:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.81438931G>A, NC_000008.10:g.82351166G>A, NG_052979.1:g.13593C>T

Select item 148777239116.

rs1487772391 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:81449074 (GRCh38)
8:82361309 (GRCh37)
Canonical SPDI:: NC_000008.11:81449073:A:G
Gene:: PMP2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000008.11:g.81449074A>G, NC_000008.10:g.82361309A>G, NG_052979.1:g.3450T>C

Select item 148721134617.

rs1487211346 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:81452404 (GRCh38)
8:82364639 (GRCh37)
Canonical SPDI:: NC_000008.11:81452403:C:A,NC_000008.11:81452403:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.81452404C>A, NC_000008.11:g.81452404C>T, NC_000008.10:g.82364639C>A, NC_000008.10:g.82364639C>T, NG_052979.1:g.120G>T, NG_052979.1:g.120G>A

Select item 148695795818.

rs1486957958 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:81438350 (GRCh38)
8:82350585 (GRCh37)
Canonical SPDI:: NC_000008.11:81438349:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.81438350A>G, NC_000008.10:g.82350585A>G, NG_052979.1:g.14174T>C

Select item 148693915519.

rs1486939155 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:81452364 (GRCh38)
8:82364599 (GRCh37)
Canonical SPDI:: NC_000008.11:81452363:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.81452364A>G, NC_000008.10:g.82364599A>G, NG_052979.1:g.160T>C

Select item 148685023420.

rs1486850234 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:81444997 (GRCh38)
8:82357232 (GRCh37)
Canonical SPDI:: NC_000008.11:81444996:T:C
Gene:: PMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.81444997T>C, NC_000008.10:g.82357232T>C, NG_052979.1:g.7527A>G

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