SNP Links for Nucleotide (Select 262205412) - SNP

Links from Nucleotide

Items: 1 to 20 of 34

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Select item 14451896431.

rs1445189643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53742515 (GRCh38)
19:54245769 (GRCh37)
Canonical SPDI:: NC_000019.10:53742514:C:T
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.53742515C>T, NC_000019.9:g.54245769C>T, NR_030215.1:n.4C>T

Select item 14307166752.

rs1430716675 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:53742557 (GRCh38)
19:54245811 (GRCh37)
Canonical SPDI:: NC_000019.10:53742556:T:G
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: intron_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_000019.10:g.53742557T>G, NC_000019.9:g.54245811T>G, NR_030215.1:n.46T>G

Select item 14235283433.

rs1423528343 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:53742584 (GRCh38)
19:54245838 (GRCh37)
Canonical SPDI:: NC_000019.10:53742583:G:A,NC_000019.10:53742583:G:T
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000019.10:g.53742584G>A, NC_000019.10:g.53742584G>T, NC_000019.9:g.54245838G>A, NC_000019.9:g.54245838G>T, NR_030215.1:n.73G>A, NR_030215.1:n.73G>T

Select item 14161914464.

rs1416191446 [Homo sapiens]

Variant type:: DEL
Alleles:: GTC>- [Show Flanks]
Chromosome:: 19:53742554 (GRCh38)
19:54245808 (GRCh37)
Canonical SPDI:: NC_000019.10:53742553:GTC:
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53742554_53742556del, NC_000019.9:g.54245808_54245810del, NR_030215.1:n.43_45del

Select item 13985419295.

rs1398541929 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:53742536 (GRCh38)
19:54245790 (GRCh37)
Canonical SPDI:: NC_000019.10:53742535:A:G
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53742536A>G, NC_000019.9:g.54245790A>G, NR_030215.1:n.25A>G

Select item 13736978326.

rs1373697832 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTT>- [Show Flanks]
Chromosome:: 19:53742550 (GRCh38)
19:54245804 (GRCh37)
Canonical SPDI:: NC_000019.10:53742545:TGTTTGTT:TGTT
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TGTTTGTT=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.53742546TGTT[1], NC_000019.9:g.54245800TGTT[1], NR_030215.1:n.35TGTT[1]

Select item 13071452057.

rs1307145205 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53742543 (GRCh38)
19:54245797 (GRCh37)
Canonical SPDI:: NC_000019.10:53742542:T:C
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53742543T>C, NC_000019.9:g.54245797T>C, NR_030215.1:n.32T>C

Select item 12935418728.

rs1293541872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:53742554 (GRCh38)
19:54245808 (GRCh37)
Canonical SPDI:: NC_000019.10:53742553:G:T
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
T=0.000546/1 (Korea1K)
HGVS:: NC_000019.10:g.53742554G>T, NC_000019.9:g.54245808G>T, NR_030215.1:n.43G>T

Select item 12743220779.

rs1274322077 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53742572 (GRCh38)
19:54245826 (GRCh37)
Canonical SPDI:: NC_000019.10:53742571:T:C
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53742572T>C, NC_000019.9:g.54245826T>C, NR_030215.1:n.61T>C

Select item 124197347210.

rs1241973472 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:53742560 (GRCh38)
19:54245815 (GRCh37)
Canonical SPDI:: NC_000019.10:53742560:AAAAAA:AAAAAAA
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.53742566dup, NC_000019.9:g.54245820dup, NR_030215.1:n.55dup

Select item 100016913211.

rs1000169132 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:53742564 (GRCh38)
19:54245818 (GRCh37)
Canonical SPDI:: NC_000019.10:53742563:A:G
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
HGVS:: NC_000019.10:g.53742564A>G, NC_000019.9:g.54245818A>G, NR_030215.1:n.53A>G

Select item 78085210712.

rs780852107 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:53742559 (GRCh38)
19:54245813 (GRCh37)
Canonical SPDI:: NC_000019.10:53742558:A:T
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000017/2 (ExAC)
HGVS:: NC_000019.10:g.53742559A>T, NC_000019.9:g.54245813A>T, NR_030215.1:n.48A>T

Select item 77471444213.

rs774714442 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:53742585 (GRCh38)
19:54245839 (GRCh37)
Canonical SPDI:: NC_000019.10:53742584:A:T
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/1 (ExAC)
T=0.00308/9 (KOREAN)
HGVS:: NC_000019.10:g.53742585A>T, NC_000019.9:g.54245839A>T, NR_030215.1:n.74A>T

Select item 77368084414.

rs773680844 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:53742541 (GRCh38)
19:54245796 (GRCh37)
Canonical SPDI:: NC_000019.10:53742541:TTT:TTTT
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/1 (ExAC)
HGVS:: NC_000019.10:g.53742544dup, NC_000019.9:g.54245798dup, NR_030215.1:n.33dup

Select item 77346816515.

rs773468165 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:53742594 (GRCh38)
19:54245848 (GRCh37)
Canonical SPDI:: NC_000019.10:53742593:T:A
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/1 (ExAC)
HGVS:: NC_000019.10:g.53742594T>A, NC_000019.9:g.54245848T>A, NR_030215.1:n.83T>A

Select item 77242713416.

rs772427134 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53742591 (GRCh38)
19:54245845 (GRCh37)
Canonical SPDI:: NC_000019.10:53742590:T:C
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: 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=0.000008/1 (ExAC)
HGVS:: NC_000019.10:g.53742591T>C, NC_000019.9:g.54245845T>C, NR_030215.1:n.80T>C

Select item 76891943117.

rs768919431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53742577 (GRCh38)
19:54245831 (GRCh37)
Canonical SPDI:: NC_000019.10:53742576:C:T
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000057/2 (ALFA)
T=0.000008/1 (ExAC)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.53742577C>T, NC_000019.9:g.54245831C>T, NR_030215.1:n.66C>T

Select item 76822172418.

rs768221724 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCCA [Show Flanks]
Chromosome:: 19:53742512 (GRCh38)
19:54245767 (GRCh37)
Canonical SPDI:: NC_000019.10:53742512:CCCA:CCCACCCA
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: CCCA=0.000004/1 (GnomAD_exomes)
CCCA=0.000008/1 (ExAC)
HGVS:: NC_000019.10:g.53742513_53742516dup, NC_000019.9:g.54245767_54245770dup, NR_030215.1:n.2_5dup

Select item 76213313319.

rs762133133 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:53742590 (GRCh38)
19:54245844 (GRCh37)
Canonical SPDI:: NC_000019.10:53742589:C:G
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000008/1 (ExAC)
HGVS:: NC_000019.10:g.53742590C>G, NC_000019.9:g.54245844C>G, NR_030215.1:n.79C>G

Select item 76187750720.

rs761877507 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:53742563 (GRCh38)
19:54245818 (GRCh37)
Canonical SPDI:: NC_000019.10:53742563::C
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000008/1 (ExAC)
HGVS:: NC_000019.10:g.53742563_53742564insC, NC_000019.9:g.54245817_54245818insC, NR_030215.1:n.52_53insC

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