SNP Links for Nucleotide (Select 224548978) - SNP

Links from Nucleotide

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Select item 14874140711.

rs1487414071 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:16441084 (GRCh38)
17:16344398 (GRCh37)
Canonical SPDI:: NC_000017.11:16441082:ACA:A
Gene:: SNHG29 (Varview), LRRC75A (Varview), SNORD65 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.16441084_16441085del, NC_000017.10:g.16344398_16344399del, NM_152350.3:c.*4_*5del, NM_152350.2:c.*4_*5del, NR_027168.2:n.334_335del, NR_027172.2:n.211_212del, NR_027162.1:n.684_685del, NR_027160.1:n.631_632del, NR_027667.1:n.552_553del, NR_027159.1:n.508_509del, NM_152350.1:c.*4_*5del, NR_027163.1:n.418_419del, NR_027164.1:n.365_366del, NR_045022.1:n.360_361del, NR_045029.1:n.316_317del, NR_027170.1:n.286_287del, NR_027166.1:n.242_243del, NR_045021.1:n.221_222del, NR_027171.1:n.508_509del, NR_027173.1:n.242_243del, NR_027178.1:n.242_243del, NR_027177.1:n.242_243del, NR_027174.1:n.242_243del, NR_045024.1:n.508_509del, NR_027175.1:n.242_243del, NR_045026.1:n.418_419del, NR_045025.1:n.154_155del, NR_027179.1:n.242_243del

Select item 14858457842.

rs1485845784 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:16441089 (GRCh38)
17:16344403 (GRCh37)
Canonical SPDI:: NC_000017.11:16441088:T:C
Gene:: SNHG29 (Varview), LRRC75A (Varview), SNORD65 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.16441089T>C, NC_000017.10:g.16344403T>C, NM_152350.3:c.*9T>C, NM_152350.2:c.*9T>C, NR_027168.2:n.339T>C, NR_027172.2:n.216T>C, NR_027162.1:n.689T>C, NR_027160.1:n.636T>C, NR_027667.1:n.557T>C, NR_027159.1:n.513T>C, NM_152350.1:c.*9T>C, NR_027163.1:n.423T>C, NR_027164.1:n.370T>C, NR_045022.1:n.365T>C, NR_045029.1:n.321T>C, NR_027170.1:n.291T>C, NR_027166.1:n.247T>C, NR_045021.1:n.226T>C, NR_027171.1:n.513T>C, NR_027173.1:n.247T>C, NR_027178.1:n.247T>C, NR_027177.1:n.247T>C, NR_027174.1:n.247T>C, NR_045024.1:n.513T>C, NR_027175.1:n.247T>C, NR_045026.1:n.423T>C, NR_045025.1:n.159T>C, NR_027179.1:n.247T>C

Select item 14828667923.

rs1482866792 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:16441151 (GRCh38)
17:16344465 (GRCh37)
Canonical SPDI:: NC_000017.11:16441150:T:C
Gene:: SNHG29 (Varview), LRRC75A (Varview), SNORD65 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.16441151T>C, NC_000017.10:g.16344465T>C, NR_045024.1:n.575T>C, NR_045026.1:n.485T>C, NR_027179.1:n.309T>C

Select item 14768553864.

rs1476855386 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:16441132 (GRCh38)
17:16344446 (GRCh37)
Canonical SPDI:: NC_000017.11:16441131:T:C
Gene:: SNHG29 (Varview), LRRC75A (Varview), SNORD65 (Varview)
Functional Consequence:: splice_donor_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.16441132T>C, NC_000017.10:g.16344446T>C, NR_045024.1:n.556T>C, NR_045026.1:n.466T>C, NR_027179.1:n.290T>C

Select item 14763457775.

rs1476345777 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:16441142 (GRCh38)
17:16344456 (GRCh37)
Canonical SPDI:: NC_000017.11:16441141:G:A
Gene:: SNHG29 (Varview), LRRC75A (Varview), SNORD65 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.16441142G>A, NC_000017.10:g.16344456G>A, NR_045024.1:n.566G>A, NR_045026.1:n.476G>A, NR_027179.1:n.300G>A

Select item 14682892216.

rs1468289221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:16439346 (GRCh38)
17:16342660 (GRCh37)
Canonical SPDI:: NC_000017.11:16439345:T:A
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview), SNORD65 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.16439346T>A, NC_000017.10:g.16342660T>A, NM_152350.3:c.205T>A, NM_152350.2:c.205T>A, NR_027168.2:n.63T>A, NR_027172.2:n.63T>A, NR_027162.1:n.360T>A, NR_027160.1:n.360T>A, NR_027161.1:n.360T>A, NR_027667.1:n.360T>A, NR_027159.1:n.360T>A, NR_045028.1:n.360T>A, NM_152350.1:c.205T>A, NR_027176.1:n.94T>A, NR_045027.1:n.360T>A, NR_027163.1:n.94T>A, NR_027164.1:n.94T>A, NR_027169.1:n.94T>A, NR_045022.1:n.94T>A, NR_045029.1:n.94T>A, NR_027167.1:n.94T>A, NR_027170.1:n.94T>A, NR_027166.1:n.94T>A, NR_027165.1:n.94T>A, NR_045021.1:n.94T>A, NR_027171.1:n.360T>A, NR_027173.1:n.94T>A, NR_027178.1:n.94T>A, NR_027158.1:n.94T>A, NR_027177.1:n.94T>A, NR_027174.1:n.94T>A, NR_045024.1:n.360T>A, NR_027175.1:n.94T>A, NR_045023.1:n.94T>A, NR_045026.1:n.94T>A, NR_027179.1:n.94T>A

Select item 14659257537.

rs1465925753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:16439389 (GRCh38)
17:16342703 (GRCh37)
Canonical SPDI:: NC_000017.11:16439388:G:A
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview), SNORD65 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.16439389G>A, NC_000017.10:g.16342703G>A, NM_152350.3:c.248G>A, NM_152350.2:c.248G>A, NR_027168.2:n.106G>A, NR_027172.2:n.106G>A, NR_027162.1:n.403G>A, NR_027160.1:n.403G>A, NR_027161.1:n.403G>A, NR_027667.1:n.403G>A, NR_027159.1:n.403G>A, NR_045028.1:n.403G>A, NM_152350.1:c.248G>A, NR_027176.1:n.137G>A, NR_045027.1:n.403G>A, NR_027163.1:n.137G>A, NR_027164.1:n.137G>A, NR_027169.1:n.137G>A, NR_045022.1:n.137G>A, NR_045029.1:n.137G>A, NR_027167.1:n.137G>A, NR_027170.1:n.137G>A, NR_027166.1:n.137G>A, NR_027165.1:n.137G>A, NR_045021.1:n.137G>A, NR_027171.1:n.403G>A, NR_027173.1:n.137G>A, NR_027178.1:n.137G>A, NR_027158.1:n.137G>A, NR_027177.1:n.137G>A, NR_027174.1:n.137G>A, NR_045024.1:n.403G>A, NR_027175.1:n.137G>A, NR_045023.1:n.137G>A, NR_045026.1:n.137G>A, NR_027179.1:n.137G>A

Select item 14645273868.

rs1464527386 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:16441214 (GRCh38)
17:16344528 (GRCh37)
Canonical SPDI:: NC_000017.11:16441213:A:G
Gene:: SNHG29 (Varview), LRRC75A (Varview), SNORD65 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant,intron_variant,2KB_upstream_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_000017.11:g.16441214A>G, NC_000017.10:g.16344528A>G, NR_045024.1:n.638A>G, NR_045026.1:n.548A>G, NR_027179.1:n.372A>G