SNP Links for Nucleotide (Select 890831817) - SNP

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Select item 14912558921.

rs1491255892 has merged into rs61254122 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 2:127656427 (GRCh38)
2:128414001 (GRCh37)
Canonical SPDI:: NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: LIMS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.0368/22 (NorthernSweden)
HGVS:: NC_000002.12:g.127656427_127656432del, NC_000002.12:g.127656428_127656432del, NC_000002.12:g.127656429_127656432del, NC_000002.12:g.127656430_127656432del, NC_000002.12:g.127656431_127656432del, NC_000002.12:g.127656432del, NC_000002.12:g.127656432dup, NC_000002.12:g.127656431_127656432dup, NC_000002.12:g.127656430_127656432dup, NC_000002.12:g.127656429_127656432dup, NC_000002.12:g.127656428_127656432dup, NC_000002.11:g.128414001_128414006del, NC_000002.11:g.128414002_128414006del, NC_000002.11:g.128414003_128414006del, NC_000002.11:g.128414004_128414006del, NC_000002.11:g.128414005_128414006del, NC_000002.11:g.128414006del, NC_000002.11:g.128414006dup, NC_000002.11:g.128414005_128414006dup, NC_000002.11:g.128414004_128414006dup, NC_000002.11:g.128414003_128414006dup, NC_000002.11:g.128414002_128414006dup, NG_042235.1:g.30366_30371del, NG_042235.1:g.30367_30371del, NG_042235.1:g.30368_30371del, NG_042235.1:g.30369_30371del, NG_042235.1:g.30370_30371del, NG_042235.1:g.30371del, NG_042235.1:g.30371dup, NG_042235.1:g.30370_30371dup, NG_042235.1:g.30369_30371dup, NG_042235.1:g.30368_30371dup, NG_042235.1:g.30367_30371dup

Select item 14912450362.

rs1491245036 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 2:127637302 (GRCh38)
2:128394877 (GRCh37)
Canonical SPDI:: NC_000002.12:127637301:CG:
Gene:: MYO7B (Varview)
Functional Consequence:: frameshift_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.127637302_127637303del, NC_000002.11:g.128394877_128394878del, NG_052848.1:g.106614_106615del, NG_042235.1:g.49484_49485del, XM_047444435.1:c.6782_6783del, XM_047444436.1:c.6773_6774del, XM_047444437.1:c.6725_6726del, XM_047444438.1:c.6608_6609del, XM_047444440.1:c.3254_3255del, XM_047444441.1:c.3197_3198del, XP_047300391.1:p.Pro2261fs, XP_047300392.1:p.Pro2258fs, XP_047300393.1:p.Pro2242fs, XP_047300394.1:p.Pro2203fs, XP_047300396.1:p.Pro1085fs, XP_047300397.1:p.Pro1066fs

Select item 14911784493.

rs1491178449 has merged into rs34246242 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACA>-,AACAAACA,AACAAACAAACA [Show Flanks]
Chromosome:: 2:127638471 (GRCh38)
2:128396046 (GRCh37)
Canonical SPDI:: NC_000002.12:127638462:AACAAACAAACA:AACAAACA,NC_000002.12:127638462:AACAAACAAACA:AACAAACAAACAAACA,NC_000002.12:127638462:AACAAACAAACA:AACAAACAAACAAACAAACA
Gene:: LIMS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AACAAACA=0.0295/293 (ALFA)
-=0.0745/280 (1000Genomes)
-=0.1596/34 (Vietnamese)
HGVS:: NC_000002.12:g.127638463AACA[2], NC_000002.12:g.127638463AACA[4], NC_000002.12:g.127638463AACA[5], NC_000002.11:g.128396038AACA[2], NC_000002.11:g.128396038AACA[4], NC_000002.11:g.128396038AACA[5], NG_052848.1:g.107775AACA[2], NG_052848.1:g.107775AACA[4], NG_052848.1:g.107775AACA[5], NG_042235.1:g.48313TGTT[2], NG_042235.1:g.48313TGTT[4], NG_042235.1:g.48313TGTT[5], NM_017980.5:c.*807TGTT[2], NM_017980.5:c.*807TGTT[4], NM_017980.5:c.*807TGTT[5], NM_017980.4:c.*807TGTT[2], NM_017980.4:c.*807TGTT[4], NM_017980.4:c.*807TGTT[5], NM_001136037.4:c.*807TGTT[2], NM_001136037.4:c.*807TGTT[4], NM_001136037.4:c.*807TGTT[5], NM_001136037.3:c.*807TGTT[2], NM_001136037.3:c.*807TGTT[4], NM_001136037.3:c.*807TGTT[5], NM_001136037.2:c.*807TGTT[2], NM_001136037.2:c.*807TGTT[4], NM_001136037.2:c.*807TGTT[5], NM_001161403.3:c.*807TGTT[2], NM_001161403.3:c.*807TGTT[4], NM_001161403.3:c.*807TGTT[5], NM_001161403.2:c.*807TGTT[2], NM_001161403.2:c.*807TGTT[4], NM_001161403.2:c.*807TGTT[5], NM_001161403.1:c.*807TGTT[2], NM_001161403.1:c.*807TGTT[4], NM_001161403.1:c.*807TGTT[5], NM_001161404.2:c.*807TGTT[2], NM_001161404.2:c.*807TGTT[4], NM_001161404.2:c.*807TGTT[5], NM_001161404.1:c.*807TGTT[2], NM_001161404.1:c.*807TGTT[4], NM_001161404.1:c.*807TGTT[5], NM_001256542.2:c.*807TGTT[2], NM_001256542.2:c.*807TGTT[4], NM_001256542.2:c.*807TGTT[5], NM_001256542.1:c.*807TGTT[2], NM_001256542.1:c.*807TGTT[4], NM_001256542.1:c.*807TGTT[5], XM_006712627.5:c.*807TGTT[2], XM_006712627.5:c.*807TGTT[4], XM_006712627.5:c.*807TGTT[5], XM_006712627.4:c.*807TGTT[2], XM_006712627.4:c.*807TGTT[4], XM_006712627.4:c.*807TGTT[5], XM_006712627.3:c.*807TGTT[2], XM_006712627.3:c.*807TGTT[4], XM_006712627.3:c.*807TGTT[5], XM_006712627.2:c.*807TGTT[2], XM_006712627.2:c.*807TGTT[4], XM_006712627.2:c.*807TGTT[5], XM_006712627.1:c.*807TGTT[2], XM_006712627.1:c.*807TGTT[4], XM_006712627.1:c.*807TGTT[5], XM_005263710.3:c.*807TGTT[2], XM_005263710.3:c.*807TGTT[4], XM_005263710.3:c.*807TGTT[5], XM_005263710.2:c.*807TGTT[2], XM_005263710.2:c.*807TGTT[4], XM_005263710.2:c.*807TGTT[5], XM_005263710.1:c.*807TGTT[2], XM_005263710.1:c.*807TGTT[4], XM_005263710.1:c.*807TGTT[5], XM_024452983.2:c.*807TGTT[2], XM_024452983.2:c.*807TGTT[4], XM_024452983.2:c.*807TGTT[5], XM_024452983.1:c.*807TGTT[2], XM_024452983.1:c.*807TGTT[4], XM_024452983.1:c.*807TGTT[5], XM_011511453.2:c.*807TGTT[2], XM_011511453.2:c.*807TGTT[4], XM_011511453.2:c.*807TGTT[5], XM_011511453.1:c.*807TGTT[2], XM_011511453.1:c.*807TGTT[4], XM_011511453.1:c.*807TGTT[5], XM_024452985.2:c.*807TGTT[2], XM_024452985.2:c.*807TGTT[4], XM_024452985.2:c.*807TGTT[5], XM_024452985.1:c.*807TGTT[2], XM_024452985.1:c.*807TGTT[4], XM_024452985.1:c.*807TGTT[5], XM_024452986.2:c.*807TGTT[2], XM_024452986.2:c.*807TGTT[4], XM_024452986.2:c.*807TGTT[5], XM_024452986.1:c.*807TGTT[2], XM_024452986.1:c.*807TGTT[4], XM_024452986.1:c.*807TGTT[5], XM_017004469.2:c.*807TGTT[2], XM_017004469.2:c.*807TGTT[4], XM_017004469.2:c.*807TGTT[5], XM_017004469.1:c.*807TGTT[2], XM_017004469.1:c.*807TGTT[4], XM_017004469.1:c.*807TGTT[5], XM_047444975.1:c.*807TGTT[2], XM_047444975.1:c.*807TGTT[4], XM_047444975.1:c.*807TGTT[5], XM_047444976.1:c.*807TGTT[2], XM_047444976.1:c.*807TGTT[4], XM_047444976.1:c.*807TGTT[5], XM_047444970.1:c.*807TGTT[2], XM_047444970.1:c.*807TGTT[4], XM_047444970.1:c.*807TGTT[5], XM_047444963.1:c.*807TGTT[2], XM_047444963.1:c.*807TGTT[4], XM_047444963.1:c.*807TGTT[5], XM_047444972.1:c.*807TGTT[2], XM_047444972.1:c.*807TGTT[4], XM_047444972.1:c.*807TGTT[5], NR_027823.1:n.1616TGTT[2], NR_027823.1:n.1616TGTT[4], NR_027823.1:n.1616TGTT[5], NM_001161405.1:c.*807TGTT[2], NM_001161405.1:c.*807TGTT[4], NM_001161405.1:c.*807TGTT[5]

Select item 14909973264.

rs1490997326 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:127655512 (GRCh38)
2:128413086 (GRCh37)
Canonical SPDI:: NC_000002.12:127655511:T:C
Gene:: LIMS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.127655512T>C, NC_000002.11:g.128413086T>C, NG_042235.1:g.31275A>G

Select item 14909313545.

rs1490931354 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:127636817 (GRCh38)
2:128394392 (GRCh37)
Canonical SPDI:: NC_000002.12:127636816:C:T
Gene:: MYO7B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.127636817C>T, NC_000002.11:g.128394392C>T, NG_052848.1:g.106129C>T, NM_001080527.2:c.6153C>T, NM_001080527.1:c.6153C>T, NM_001393586.1:c.6231C>T, NM_001393594.1:c.2712C>T, NG_042235.1:g.49970G>A, XM_011511218.3:c.6240C>T, XM_011511218.2:c.6240C>T, XM_011511218.1:c.6240C>T, XM_017004169.2:c.6297C>T, XM_017004169.1:c.6297C>T, XM_047444435.1:c.6297C>T, XM_047444436.1:c.6288C>T, XM_047444437.1:c.6240C>T, XM_047444438.1:c.6123C>T, XM_047444440.1:c.2769C>T, XM_047444441.1:c.2712C>T, NM_183371.1:c.2712C>T

Select item 14908852446.

rs1490885244 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:127640988 (GRCh38)
2:128398563 (GRCh37)
Canonical SPDI:: NC_000002.12:127640987:G:A
Gene:: LIMS2 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.127640988G>A, NC_000002.11:g.128398563G>A, NG_042235.1:g.45799C>T, NM_017980.5:c.733C>T, NM_017980.4:c.733C>T, NM_001136037.4:c.727C>T, NM_001136037.3:c.727C>T, NM_001136037.2:c.727C>T, NM_001161403.3:c.661C>T, NM_001161403.2:c.661C>T, NM_001161403.1:c.661C>T, NM_001161404.2:c.646C>T, NM_001161404.1:c.646C>T, NM_001256542.2:c.205C>T, NM_001256542.1:c.205C>T, XM_006712627.5:c.313C>T, XM_006712627.4:c.313C>T, XM_006712627.3:c.313C>T, XM_006712627.2:c.313C>T, XM_006712627.1:c.313C>T, XM_005263710.3:c.454C>T, XM_005263710.2:c.454C>T, XM_005263710.1:c.454C>T, XM_024452983.2:c.646C>T, XM_024452983.1:c.646C>T, XM_011511453.2:c.582C>T, XM_011511453.1:c.582C>T, XM_024452985.2:c.205C>T, XM_024452985.1:c.205C>T, XM_024452986.2:c.205C>T, XM_024452986.1:c.205C>T, XM_017004469.2:c.324C>T, XM_017004469.1:c.324C>T, XM_047444975.1:c.205C>T, XM_047444976.1:c.205C>T, XM_047444970.1:c.510C>T, XM_047444963.1:c.718C>T, XM_047444972.1:c.400C>T, NR_027823.1:n.444C>T, NM_001161405.1:c.205C>T, XM_047444971.1:c.733C>T, NP_060450.2:p.His245Tyr, NP_001129509.2:p.His243Tyr, NP_001154875.1:p.His221Tyr, NP_001154876.1:p.His216Tyr, NP_001243471.1:p.His69Tyr, XP_006712690.1:p.His105Tyr, XP_005263767.1:p.His152Tyr, XP_024308751.1:p.His216Tyr, XP_024308753.1:p.His69Tyr, XP_024308754.1:p.His69Tyr, XP_047300931.1:p.His69Tyr, XP_047300932.1:p.His69Tyr, XP_047300919.1:p.His240Tyr, XP_047300928.1:p.His134Tyr, XP_047300927.1:p.His245Tyr

Select item 14908722207.

rs1490872220 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:127642560 (GRCh38)
2:128400135 (GRCh37)
Canonical SPDI:: NC_000002.12:127642559:T:C
Gene:: LIMS2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.127642560T>C, NC_000002.11:g.128400135T>C, NG_042235.1:g.44227A>G

Select item 14908461628.

rs1490846162 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:127641809 (GRCh38)
2:128399384 (GRCh37)
Canonical SPDI:: NC_000002.12:127641808:A:G
Gene:: LIMS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.127641809A>G, NC_000002.11:g.128399384A>G, NG_042235.1:g.44978T>C, XM_017004469.2:c.183T>C, XM_017004469.1:c.183T>C

Select item 14907475989.

rs1490747598 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: 2:127649098 (GRCh38)
2:128406673 (GRCh37)
Canonical SPDI:: NC_000002.12:127649095:AAGAA:AA
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.00008/1 (ALFA)
-=0.00005/1 (TOMMO)
HGVS:: NC_000002.12:g.127649098_127649100del, NC_000002.11:g.128406673_128406675del, NG_042235.1:g.37689_37691del

Select item 149071528010.

rs1490715280 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGGCTCA [Show Flanks]
Chromosome:: 2:127661420 (GRCh38)
2:128418995 (GRCh37)
Canonical SPDI:: NC_000002.12:127661420:CATGGCTCA:CATGGCTCATGGCTCA
Gene:: LIMS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CATGGCTCATGGCTCA=0./0 (ALFA)
CATGGCT=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.127661423_127661429dup, NC_000002.11:g.128418997_128419003dup, NG_042235.1:g.25360_25366dup

Select item 149067906211.

rs1490679062 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:127660855 (GRCh38)
2:128418429 (GRCh37)
Canonical SPDI:: NC_000002.12:127660854:C:T
Gene:: LIMS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.127660855C>T, NC_000002.11:g.128418429C>T, NG_042235.1:g.25932G>A

Select item 149064217412.

rs1490642174 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:127655699 (GRCh38)
2:128413273 (GRCh37)
Canonical SPDI:: NC_000002.12:127655698:G:T
Gene:: LIMS2 (Varview)
Functional Consequence:: intron_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_000002.12:g.127655699G>T, NC_000002.11:g.128413273G>T, NG_042235.1:g.31088C>A

Select item 149060273913.

rs1490602739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:127636426 (GRCh38)
2:128394001 (GRCh37)
Canonical SPDI:: NC_000002.12:127636425:G:A
Gene:: MYO7B (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.127636426G>A, NC_000002.11:g.128394001G>A, NG_052848.1:g.105738G>A, NG_042235.1:g.50361C>T

Select item 149053820014.

rs1490538200 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 2:127682418 (GRCh38)
2:128439992 (GRCh37)
Canonical SPDI:: NC_000002.12:127682417:AA:A
Gene:: LIMS2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.127682419del, NC_000002.11:g.128439993del, NG_042235.1:g.4369del

Select item 149051478715.

rs1490514787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:127681456 (GRCh38)
2:128439030 (GRCh37)
Canonical SPDI:: NC_000002.12:127681455:G:T
Gene:: LIMS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_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_000002.12:g.127681456G>T, NC_000002.11:g.128439030G>T, NG_042235.1:g.5331C>A, NM_001161404.2:c.-141C>A, NM_001161404.1:c.-141C>A

Select item 149050708616.

rs1490507086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:127655132 (GRCh38)
2:128412706 (GRCh37)
Canonical SPDI:: NC_000002.12:127655131:C:G,NC_000002.12:127655131:C:T
Gene:: LIMS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000071/1 (TOMMO)
G=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.127655132C>G, NC_000002.12:g.127655132C>T, NC_000002.11:g.128412706C>G, NC_000002.11:g.128412706C>T, NG_042235.1:g.31655G>C, NG_042235.1:g.31655G>A

Select item 149049194317.

rs1490491943 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:127654283 (GRCh38)
2:128411857 (GRCh37)
Canonical SPDI:: NC_000002.12:127654282:G:A
Gene:: LIMS2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.127654283G>A, NC_000002.11:g.128411857G>A, NG_042235.1:g.32504C>T

Select item 149045805818.

rs1490458058 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:127640286 (GRCh38)
2:128397861 (GRCh37)
Canonical SPDI:: NC_000002.12:127640285:A:G,NC_000002.12:127640285:A:T
Gene:: LIMS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant
HGVS:: NC_000002.12:g.127640286A>G, NC_000002.12:g.127640286A>T, NC_000002.11:g.128397861A>G, NC_000002.11:g.128397861A>T, NG_042235.1:g.46501T>C, NG_042235.1:g.46501T>A, NM_017980.5:c.858T>C, NM_017980.5:c.858T>A, NM_017980.4:c.858T>C, NM_017980.4:c.858T>A, NM_001136037.4:c.852T>C, NM_001136037.4:c.852T>A, NM_001136037.3:c.852T>C, NM_001136037.3:c.852T>A, NM_001136037.2:c.852T>C, NM_001136037.2:c.852T>A, NM_001161403.3:c.786T>C, NM_001161403.3:c.786T>A, NM_001161403.2:c.786T>C, NM_001161403.2:c.786T>A, NM_001161403.1:c.786T>C, NM_001161403.1:c.786T>A, NM_001161404.2:c.771T>C, NM_001161404.2:c.771T>A, NM_001161404.1:c.771T>C, NM_001161404.1:c.771T>A, NM_001256542.2:c.330T>C, NM_001256542.2:c.330T>A, NM_001256542.1:c.330T>C, NM_001256542.1:c.330T>A, XM_006712627.5:c.438T>C, XM_006712627.5:c.438T>A, XM_006712627.4:c.438T>C, XM_006712627.4:c.438T>A, XM_006712627.3:c.438T>C, XM_006712627.3:c.438T>A, XM_006712627.2:c.438T>C, XM_006712627.2:c.438T>A, XM_006712627.1:c.438T>C, XM_006712627.1:c.438T>A, XM_005263710.3:c.579T>C, XM_005263710.3:c.579T>A, XM_005263710.2:c.579T>C, XM_005263710.2:c.579T>A, XM_005263710.1:c.579T>C, XM_005263710.1:c.579T>A, XM_024452983.2:c.771T>C, XM_024452983.2:c.771T>A, XM_024452983.1:c.771T>C, XM_024452983.1:c.771T>A, XM_011511453.2:c.735T>C, XM_011511453.2:c.735T>A, XM_011511453.1:c.735T>C, XM_011511453.1:c.735T>A, XM_024452985.2:c.330T>C, XM_024452985.2:c.330T>A, XM_024452985.1:c.330T>C, XM_024452985.1:c.330T>A, XM_024452986.2:c.330T>C, XM_024452986.2:c.330T>A, XM_024452986.1:c.330T>C, XM_024452986.1:c.330T>A, XM_017004469.2:c.477T>C, XM_017004469.2:c.477T>A, XM_017004469.1:c.477T>C, XM_017004469.1:c.477T>A, XM_047444975.1:c.330T>C, XM_047444975.1:c.330T>A, XM_047444976.1:c.330T>C, XM_047444976.1:c.330T>A, XM_047444970.1:c.663T>C, XM_047444970.1:c.663T>A, XM_047444963.1:c.843T>C, XM_047444963.1:c.843T>A, XM_047444972.1:c.525T>C, XM_047444972.1:c.525T>A, NR_027823.1:n.569T>C, NR_027823.1:n.569T>A, NM_001161405.1:c.330T>C, NM_001161405.1:c.330T>A, XM_047444971.1:c.*52T>C, XM_047444971.1:c.*52T>A, NP_060450.2:p.His286Gln, NP_001129509.2:p.His284Gln, NP_001154875.1:p.His262Gln, NP_001154876.1:p.His257Gln, NP_001243471.1:p.His110Gln, XP_006712690.1:p.His146Gln, XP_005263767.1:p.His193Gln, XP_024308751.1:p.His257Gln, XP_011509755.1:p.His245Gln, XP_024308753.1:p.His110Gln, XP_024308754.1:p.His110Gln, XP_016859958.1:p.His159Gln, XP_047300931.1:p.His110Gln, XP_047300932.1:p.His110Gln, XP_047300926.1:p.His221Gln, XP_047300919.1:p.His281Gln, XP_047300928.1:p.His175Gln

Select item 149035598719.

rs1490355987 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:127641452 (GRCh38)
2:128399027 (GRCh37)
Canonical SPDI:: NC_000002.12:127641451:G:A
Gene:: LIMS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_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_000002.12:g.127641452G>A, NC_000002.11:g.128399027G>A, NG_042235.1:g.45335C>T

Select item 149031093120.

rs1490310931 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:127675251 (GRCh38)
2:128432825 (GRCh37)
Canonical SPDI:: NC_000002.12:127675250:T:G
Gene:: LIMS2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.127675251T>G, NC_000002.11:g.128432825T>G, NG_042235.1:g.11536A>C, NM_001136037.4:c.-227A>C, NM_001136037.3:c.-227A>C, NM_001161403.3:c.-227A>C, NM_001161403.2:c.-227A>C, XM_006712627.5:c.-227A>C, XM_005263710.3:c.-274A>C, XM_047444970.1:c.-227A>C

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