SNP Links for Nucleotide (Select 86604707) - SNP

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Links from Nucleotide

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Select item 14838547511.

rs1483854751 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:139278823 (GRCh38)
5:138614512 (GRCh37)
Canonical SPDI:: NC_000005.10:139278822:T:C
Gene:: MATR3 (Varview), SNORA74A (Varview), SNHG4 (Varview), LOC124901081 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.139278823T>C, NC_000005.9:g.138614512T>C, NG_012846.1:g.9721T>C, NR_002915.1:n.44T>C

Select item 14786076152.

rs1478607615 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:139278834 (GRCh38)
5:138614523 (GRCh37)
Canonical SPDI:: NC_000005.10:139278833:T:C
Gene:: MATR3 (Varview), SNORA74A (Varview), SNHG4 (Varview), LOC124901081 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.139278834T>C, NC_000005.9:g.138614523T>C, NG_012846.1:g.9732T>C, NR_002915.1:n.55T>C

Select item 14654245613.

rs1465424561 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:139278844 (GRCh38)
5:138614533 (GRCh37)
Canonical SPDI:: NC_000005.10:139278843:G:C
Gene:: MATR3 (Varview), SNORA74A (Varview), SNHG4 (Varview), LOC124901081 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.139278844G>C, NC_000005.9:g.138614533G>C, NG_012846.1:g.9742G>C, NR_002915.1:n.65G>C

Select item 14638740804.

rs1463874080 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:139278820 (GRCh38)
5:138614509 (GRCh37)
Canonical SPDI:: NC_000005.10:139278819:T:C
Gene:: MATR3 (Varview), SNORA74A (Varview), SNHG4 (Varview), LOC124901081 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.139278820T>C, NC_000005.9:g.138614509T>C, NG_012846.1:g.9718T>C, NR_002915.1:n.41T>C

Select item 14604232455.

rs1460423245 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:139278797 (GRCh38)
5:138614486 (GRCh37)
Canonical SPDI:: NC_000005.10:139278796:T:C
Gene:: MATR3 (Varview), SNORA74A (Varview), SNHG4 (Varview), LOC124901081 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.139278797T>C, NC_000005.9:g.138614486T>C, NG_012846.1:g.9695T>C, NR_002915.1:n.18T>C

Select item 14395539496.

rs1439553949 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:139278971 (GRCh38)
5:138614660 (GRCh37)
Canonical SPDI:: NC_000005.10:139278970:C:T
Gene:: MATR3 (Varview), SNORA74A (Varview), SNHG4 (Varview), LOC124901081 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.139278971C>T, NC_000005.9:g.138614660C>T, NG_012846.1:g.9869C>T, NR_002915.1:n.192C>T

Select item 14322954477.

rs1432295447 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:139278837 (GRCh38)
5:138614526 (GRCh37)
Canonical SPDI:: NC_000005.10:139278836:T:C
Gene:: MATR3 (Varview), SNORA74A (Varview), SNHG4 (Varview), LOC124901081 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.139278837T>C, NC_000005.9:g.138614526T>C, NG_012846.1:g.9735T>C, NR_002915.1:n.58T>C

Select item 14262615448.

rs1426261544 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:139278838 (GRCh38)
5:138614527 (GRCh37)
Canonical SPDI:: NC_000005.10:139278837:G:A
Gene:: MATR3 (Varview), SNORA74A (Varview), SNHG4 (Varview), LOC124901081 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.139278838G>A, NC_000005.9:g.138614527G>A, NG_012846.1:g.9736G>A, NR_002915.1:n.59G>A

Select item 14182071119.

rs1418207111 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:139278836 (GRCh38)
5:138614525 (GRCh37)
Canonical SPDI:: NC_000005.10:139278835:T:C
Gene:: MATR3 (Varview), SNORA74A (Varview), SNHG4 (Varview), LOC124901081 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.139278836T>C, NC_000005.9:g.138614525T>C, NG_012846.1:g.9734T>C, NR_002915.1:n.57T>C

Select item 140022165110.

rs1400221651 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:139278816 (GRCh38)
5:138614505 (GRCh37)
Canonical SPDI:: NC_000005.10:139278815:C:T
Gene:: MATR3 (Varview), SNORA74A (Varview), SNHG4 (Varview), LOC124901081 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.139278816C>T, NC_000005.9:g.138614505C>T, NG_012846.1:g.9714C>T, NR_002915.1:n.37C>T

Select item 139368663911.

rs1393686639 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 5:139278921 (GRCh38)
5:138614610 (GRCh37)
Canonical SPDI:: NC_000005.10:139278920:G:
Gene:: MATR3 (Varview), SNORA74A (Varview), SNHG4 (Varview), LOC124901081 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.139278921del, NC_000005.9:g.138614610del, NG_012846.1:g.9819del, NR_002915.1:n.142del

Select item 137624291512.

rs1376242915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:139278831 (GRCh38)
5:138614520 (GRCh37)
Canonical SPDI:: NC_000005.10:139278830:C:T
Gene:: MATR3 (Varview), SNORA74A (Varview), SNHG4 (Varview), LOC124901081 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_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_000005.10:g.139278831C>T, NC_000005.9:g.138614520C>T, NG_012846.1:g.9729C>T, NR_002915.1:n.52C>T

Select item 136833881413.

rs1368338814 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 5:139278972 (GRCh38)
5:138614661 (GRCh37)
Canonical SPDI:: NC_000005.10:139278971:AAA:AA
Gene:: MATR3 (Varview), SNORA74A (Varview), SNHG4 (Varview), LOC124901081 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.139278974del, NC_000005.9:g.138614663del, NG_012846.1:g.9872del, NR_002915.1:n.195del

Select item 136216428814.

rs1362164288 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:139278860 (GRCh38)
5:138614549 (GRCh37)
Canonical SPDI:: NC_000005.10:139278859:T:C
Gene:: MATR3 (Varview), SNORA74A (Varview), SNHG4 (Varview), LOC124901081 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000087/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.139278860T>C, NC_000005.9:g.138614549T>C, NG_012846.1:g.9758T>C, NR_002915.1:n.81T>C

Select item 136126153415.

rs1361261534 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAA>- [Show Flanks]
Chromosome:: 5:139278974 (GRCh38)
5:138614663 (GRCh37)
Canonical SPDI:: NC_000005.10:139278970:CAAACAA:CAA
Gene:: MATR3 (Varview), SNORA74A (Varview), SNHG4 (Varview), LOC124901081 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.139278974_139278977del, NC_000005.9:g.138614663_138614666del, NG_012846.1:g.9872_9875del, NR_002915.1:n.195_198del

Select item 135973951316.

rs1359739513 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:139278843 (GRCh38)
5:138614532 (GRCh37)
Canonical SPDI:: NC_000005.10:139278842:A:G
Gene:: MATR3 (Varview), SNORA74A (Varview), SNHG4 (Varview), LOC124901081 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.139278843A>G, NC_000005.9:g.138614532A>G, NG_012846.1:g.9741A>G, NR_002915.1:n.64A>G

Select item 132807922917.

rs1328079229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:139278804 (GRCh38)
5:138614493 (GRCh37)
Canonical SPDI:: NC_000005.10:139278803:G:T
Gene:: MATR3 (Varview), SNORA74A (Varview), SNHG4 (Varview), LOC124901081 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_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_000005.10:g.139278804G>T, NC_000005.9:g.138614493G>T, NG_012846.1:g.9702G>T, NR_002915.1:n.25G>T

Select item 130581839618.

rs1305818396 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:139278902 (GRCh38)
5:138614591 (GRCh37)
Canonical SPDI:: NC_000005.10:139278901:T:C
Gene:: MATR3 (Varview), SNORA74A (Varview), SNHG4 (Varview), LOC124901081 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.139278902T>C, NC_000005.9:g.138614591T>C, NG_012846.1:g.9800T>C, NR_002915.1:n.123T>C

Select item 130349968519.

rs1303499685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:139278890 (GRCh38)
5:138614579 (GRCh37)
Canonical SPDI:: NC_000005.10:139278889:G:A
Gene:: MATR3 (Varview), SNORA74A (Varview), SNHG4 (Varview), LOC124901081 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.139278890G>A, NC_000005.9:g.138614579G>A, NG_012846.1:g.9788G>A, NR_002915.1:n.111G>A

Select item 125048474120.

rs1250484741 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:139278813 (GRCh38)
5:138614502 (GRCh37)
Canonical SPDI:: NC_000005.10:139278812:G:A
Gene:: MATR3 (Varview), SNORA74A (Varview), SNHG4 (Varview), LOC124901081 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
HGVS:: NC_000005.10:g.139278813G>A, NC_000005.9:g.138614502G>A, NG_012846.1:g.9711G>A, NR_002915.1:n.34G>A