SNP Links for Nucleotide (Select 1011750912) - SNP

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Select item 14915834381.

rs1491583438 has merged into rs35643504 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:49099131 (GRCh38)
12:49492914 (GRCh37)
Canonical SPDI:: NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LMBR1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.49099131_49099142del, NC_000012.12:g.49099137_49099142del, NC_000012.12:g.49099139_49099142del, NC_000012.12:g.49099140_49099142del, NC_000012.12:g.49099141_49099142del, NC_000012.12:g.49099142del, NC_000012.12:g.49099142dup, NC_000012.12:g.49099141_49099142dup, NC_000012.12:g.49099140_49099142dup, NC_000012.12:g.49099138_49099142dup, NC_000012.11:g.49492914_49492925del, NC_000012.11:g.49492920_49492925del, NC_000012.11:g.49492922_49492925del, NC_000012.11:g.49492923_49492925del, NC_000012.11:g.49492924_49492925del, NC_000012.11:g.49492925del, NC_000012.11:g.49492925dup, NC_000012.11:g.49492924_49492925dup, NC_000012.11:g.49492923_49492925dup, NC_000012.11:g.49492921_49492925dup, NG_008973.2:g.685_696del, NG_008973.2:g.691_696del, NG_008973.2:g.693_696del, NG_008973.2:g.694_696del, NG_008973.2:g.695_696del, NG_008973.2:g.696del, NG_008973.2:g.696dup, NG_008973.2:g.695_696dup, NG_008973.2:g.694_696dup, NG_008973.2:g.692_696dup

Select item 14913499752.

rs1491349975 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->C
Chromosome:: no mapping
Canonical SPDI:

Select item 14908551253.

rs1490855125 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49090739 (GRCh38)
12:49484522 (GRCh37)
Canonical SPDI:: NC_000012.12:49090738:G:A
Gene:: DHH (Varview), LOC105369759 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (Korea1K)
A=0.000011/3 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.49090739G>A, NC_000012.11:g.49484522G>A, NG_008973.2:g.9081C>T

Select item 14906666594.

rs1490666659 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:49099527 (GRCh38)
12:49493310 (GRCh37)
Canonical SPDI:: NC_000012.12:49099526:T:G
Gene:: LMBR1L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.49099527T>G, NC_000012.11:g.49493310T>G, NG_008973.2:g.293A>C

Select item 14906159505.

rs1490615950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49098572 (GRCh38)
12:49492355 (GRCh37)
Canonical SPDI:: NC_000012.12:49098571:C:T
Gene:: LMBR1L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.49098572C>T, NC_000012.11:g.49492355C>T, NG_008973.2:g.1248G>A

Select item 14905908546.

rs1490590854 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:49097442 (GRCh38)
12:49491225 (GRCh37)
Canonical SPDI:: NC_000012.12:49097441:A:G
Gene:: LMBR1L (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.49097442A>G, NC_000012.11:g.49491225A>G, NG_008973.2:g.2378T>C, NM_018113.4:c.*230T>C, NM_018113.3:c.*230T>C, NM_018113.2:c.*230T>C, NM_001300750.2:c.*230T>C, NM_001300750.1:c.*230T>C, NM_001352161.2:c.*230T>C, NM_001352161.1:c.*230T>C, NM_001352163.2:c.*230T>C, NM_001352163.1:c.*230T>C, NM_001352166.2:c.*230T>C, NM_001352166.1:c.*230T>C, NM_001300751.2:c.*230T>C, NM_001300751.1:c.*230T>C, NM_001352168.2:c.*230T>C, NM_001352168.1:c.*230T>C, NM_001352167.2:c.*230T>C, NM_001352167.1:c.*230T>C, NM_001352162.2:c.*230T>C, NM_001352162.1:c.*230T>C, NM_001352165.2:c.*230T>C, NM_001352165.1:c.*230T>C, XM_024449053.2:c.*230T>C, XM_024449053.1:c.*230T>C, NM_001352164.2:c.*230T>C, NM_001352164.1:c.*230T>C, XM_047429139.1:c.*230T>C, XM_047429143.1:c.*230T>C, XM_047429140.1:c.*230T>C, XM_047429142.1:c.*230T>C

Select item 14903665627.

rs1490366562 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 12:49090276 (GRCh38)
12:49484059 (GRCh37)
Canonical SPDI:: NC_000012.12:49090275:G:A,NC_000012.12:49090275:G:C,NC_000012.12:49090275:G:T
Gene:: DHH (Varview), LOC105369759 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49090276G>A, NC_000012.12:g.49090276G>C, NC_000012.12:g.49090276G>T, NC_000012.11:g.49484059G>A, NC_000012.11:g.49484059G>C, NC_000012.11:g.49484059G>T, NG_008973.2:g.9544C>T, NG_008973.2:g.9544C>G, NG_008973.2:g.9544C>A, NM_021044.4:c.774C>T, NM_021044.4:c.774C>G, NM_021044.4:c.774C>A, NM_021044.3:c.774C>T, NM_021044.3:c.774C>G, NM_021044.3:c.774C>A, NM_021044.2:c.774C>T, NM_021044.2:c.774C>G, NM_021044.2:c.774C>A, XM_017019380.2:c.633C>T, XM_017019380.2:c.633C>G, XM_017019380.2:c.633C>A, XM_017019380.1:c.633C>T, XM_017019380.1:c.633C>G, XM_017019380.1:c.633C>A, XM_017019381.2:c.432C>T, XM_017019381.2:c.432C>G, XM_017019381.2:c.432C>A, XM_017019381.1:c.432C>T, XM_017019381.1:c.432C>G, XM_017019381.1:c.432C>A

Select item 14903127468.

rs1490312746 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:49089206 (GRCh38)
12:49482989 (GRCh37)
Canonical SPDI:: NC_000012.12:49089205:G:C
Gene:: DHH (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.49089206G>C, NC_000012.11:g.49482989G>C, NG_008973.2:g.10614C>G, NM_021044.4:c.*653C>G, NM_021044.3:c.*653C>G, XM_017019380.2:c.*653C>G, XM_017019380.1:c.*653C>G, XM_017019381.2:c.*653C>G, XM_017019381.1:c.*653C>G

Select item 14902415829.

rs1490241582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49092260 (GRCh38)
12:49486043 (GRCh37)
Canonical SPDI:: NC_000012.12:49092259:C:T
Gene:: DHH (Varview), LOC105369759 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.49092260C>T, NC_000012.11:g.49486043C>T, NG_008973.2:g.7560G>A, XR_007063295.1:n.167C>T

Select item 148969967610.

rs1489699676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:49093510 (GRCh38)
12:49487293 (GRCh37)
Canonical SPDI:: NC_000012.12:49093509:G:A,NC_000012.12:49093509:G:T
Gene:: DHH (Varview), LOC105369759 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000012.12:g.49093510G>A, NC_000012.12:g.49093510G>T, NC_000012.11:g.49487293G>A, NC_000012.11:g.49487293G>T, NG_008973.2:g.6310C>T, NG_008973.2:g.6310C>A

Select item 148945849011.

rs1489458490 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:49085853 (GRCh38)
12:49479636 (GRCh37)
Canonical SPDI:: NC_000012.12:49085852:A:G,NC_000012.12:49085852:A:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.49085853A>G, NC_000012.12:g.49085853A>T, NC_000012.11:g.49479636A>G, NC_000012.11:g.49479636A>T, NG_008973.2:g.13967T>C, NG_008973.2:g.13967T>A

Select item 148908716512.

rs1489087165 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:49089422 (GRCh38)
12:49483205 (GRCh37)
Canonical SPDI:: NC_000012.12:49089421:T:G
Gene:: DHH (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000034/9 (TOPMED)
HGVS:: NC_000012.12:g.49089422T>G, NC_000012.11:g.49483205T>G, NG_008973.2:g.10398A>C, NM_021044.4:c.*437A>C, NM_021044.3:c.*437A>C, NM_021044.2:c.*437A>C, XM_017019380.2:c.*437A>C, XM_017019380.1:c.*437A>C, XM_017019381.2:c.*437A>C, XM_017019381.1:c.*437A>C

Select item 148902135913.

rs1489021359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:49093330 (GRCh38)
12:49487113 (GRCh37)
Canonical SPDI:: NC_000012.12:49093329:G:C
Gene:: DHH (Varview), LOC105369759 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_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_000012.12:g.49093330G>C, NC_000012.11:g.49487113G>C, NG_008973.2:g.6490C>G, XR_007063296.1:n.169G>C

Select item 148885175414.

rs1488851754 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:49092224 (GRCh38)
12:49486007 (GRCh37)
Canonical SPDI:: NC_000012.12:49092223:T:C
Gene:: DHH (Varview), LOC105369759 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49092224T>C, NC_000012.11:g.49486007T>C, NG_008973.2:g.7596A>G, XR_007063295.1:n.131T>C

Select item 148880926715.

rs1488809267 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:49095582 (GRCh38)
12:49489365 (GRCh37)
Canonical SPDI:: NC_000012.12:49095581:T:G
Gene:: DHH (Varview), LOC105369759 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.49095582T>G, NC_000012.11:g.49489365T>G, NG_008973.2:g.4238A>C, XR_007063295.1:n.574T>G

Select item 148869739416.

rs1488697394 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49092809 (GRCh38)
12:49486592 (GRCh37)
Canonical SPDI:: NC_000012.12:49092808:G:A
Gene:: DHH (Varview), LOC105369759 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.49092809G>A, NC_000012.11:g.49486592G>A, NG_008973.2:g.7011C>T, NG_055939.1:g.236G>A, XM_017019380.2:c.-352C>T, XM_017019380.1:c.-352C>T

Select item 148864534317.

rs1488645343 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:49091812 (GRCh38)
12:49485595 (GRCh37)
Canonical SPDI:: NC_000012.12:49091811:A:G
Gene:: DHH (Varview), LOC105369759 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_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_000012.12:g.49091812A>G, NC_000012.11:g.49485595A>G, NG_008973.2:g.8008T>C, XM_017019381.2:c.-361T>C

Select item 148843899518.

rs1488438995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49087113 (GRCh38)
12:49480896 (GRCh37)
Canonical SPDI:: NC_000012.12:49087112:G:A
Gene:: DHH (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49087113G>A, NC_000012.11:g.49480896G>A, NG_008973.2:g.12707C>T, NM_021044.4:c.*2746C>T, NM_021044.3:c.*2746C>T, XM_017019380.2:c.*2746C>T, XM_017019380.1:c.*2746C>T, XM_017019381.2:c.*2746C>T, XM_017019381.1:c.*2746C>T

Select item 148807497419.

rs1488074974 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:49094790 (GRCh38)
12:49488573 (GRCh37)
Canonical SPDI:: NC_000012.12:49094789:T:C
Gene:: DHH (Varview), LOC105369759 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_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_000012.12:g.49094790T>C, NC_000012.11:g.49488573T>C, NG_008973.2:g.5030A>G, NM_021044.4:c.-278A>G, NM_021044.3:c.-278A>G, NM_021044.2:c.-278A>G

Select item 148799644920.

rs1487996449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:49097337 (GRCh38)
12:49491120 (GRCh37)
Canonical SPDI:: NC_000012.12:49097336:C:A
Gene:: LMBR1L (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49097337C>A, NC_000012.11:g.49491120C>A, NG_008973.2:g.2483G>T, NM_018113.4:c.*335G>T, NM_018113.3:c.*335G>T, NM_018113.2:c.*335G>T, NM_001300750.2:c.*335G>T, NM_001300750.1:c.*335G>T, NM_001352161.2:c.*335G>T, NM_001352161.1:c.*335G>T, NM_001352163.2:c.*335G>T, NM_001352163.1:c.*335G>T, NM_001352166.2:c.*335G>T, NM_001352166.1:c.*335G>T, NM_001300751.2:c.*335G>T, NM_001300751.1:c.*335G>T, NM_001352168.2:c.*335G>T, NM_001352168.1:c.*335G>T, NM_001352167.2:c.*335G>T, NM_001352167.1:c.*335G>T, NM_001352162.2:c.*335G>T, NM_001352162.1:c.*335G>T, NM_001352165.2:c.*335G>T, NM_001352165.1:c.*335G>T, XM_024449053.2:c.*335G>T, XM_024449053.1:c.*335G>T, NM_001352164.2:c.*335G>T, NM_001352164.1:c.*335G>T, XM_047429139.1:c.*335G>T, XM_047429143.1:c.*335G>T, XM_047429140.1:c.*335G>T, XM_047429142.1:c.*335G>T

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