SNP Links for Nucleotide (Select 338968878) - SNP

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Select item 14914342411.

rs1491434241 has merged into rs777186983 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:143291789 (GRCh38)
7:142988882 (GRCh37)
Canonical SPDI:: NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:143291780:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CASP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.143291789_143291800del, NC_000007.14:g.143291790_143291800del, NC_000007.14:g.143291791_143291800del, NC_000007.14:g.143291792_143291800del, NC_000007.14:g.143291793_143291800del, NC_000007.14:g.143291794_143291800del, NC_000007.14:g.143291795_143291800del, NC_000007.14:g.143291796_143291800del, NC_000007.14:g.143291797_143291800del, NC_000007.14:g.143291798_143291800del, NC_000007.14:g.143291799_143291800del, NC_000007.14:g.143291800del, NC_000007.14:g.143291800dup, NC_000007.14:g.143291799_143291800dup, NC_000007.14:g.143291798_143291800dup, NC_000007.14:g.143291797_143291800dup, NC_000007.14:g.143291796_143291800dup, NC_000007.14:g.143291795_143291800dup, NC_000007.14:g.143291794_143291800dup, NC_000007.14:g.143291793_143291800dup, NC_000007.14:g.143291792_143291800dup, NC_000007.14:g.143291791_143291800dup, NC_000007.14:g.143291790_143291800dup, NC_000007.14:g.143291789_143291800dup, NC_000007.14:g.143291788_143291800dup, NC_000007.14:g.143291787_143291800dup, NC_000007.14:g.143291786_143291800dup, NC_000007.14:g.143291785_143291800dup, NC_000007.14:g.143291784_143291800dup, NC_000007.14:g.143291783_143291800dup, NC_000007.14:g.143291782_143291800dup, NC_000007.14:g.143291781_143291800dup, NC_000007.14:g.143291800_143291801insTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.143291800_143291801insTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.143291800_143291801insTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.143291800_143291801insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.143291800_143291801insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.143291800_143291801insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.143291800_143291801insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.143291800_143291801insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.143291800_143291801insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.142988882_142988893del, NC_000007.13:g.142988883_142988893del, NC_000007.13:g.142988884_142988893del, NC_000007.13:g.142988885_142988893del, NC_000007.13:g.142988886_142988893del, NC_000007.13:g.142988887_142988893del, NC_000007.13:g.142988888_142988893del, NC_000007.13:g.142988889_142988893del, NC_000007.13:g.142988890_142988893del, NC_000007.13:g.142988891_142988893del, NC_000007.13:g.142988892_142988893del, NC_000007.13:g.142988893del, NC_000007.13:g.142988893dup, NC_000007.13:g.142988892_142988893dup, NC_000007.13:g.142988891_142988893dup, NC_000007.13:g.142988890_142988893dup, NC_000007.13:g.142988889_142988893dup, NC_000007.13:g.142988888_142988893dup, NC_000007.13:g.142988887_142988893dup, NC_000007.13:g.142988886_142988893dup, NC_000007.13:g.142988885_142988893dup, NC_000007.13:g.142988884_142988893dup, NC_000007.13:g.142988883_142988893dup, NC_000007.13:g.142988882_142988893dup, NC_000007.13:g.142988881_142988893dup, NC_000007.13:g.142988880_142988893dup, NC_000007.13:g.142988879_142988893dup, NC_000007.13:g.142988878_142988893dup, NC_000007.13:g.142988877_142988893dup, NC_000007.13:g.142988876_142988893dup, NC_000007.13:g.142988875_142988893dup, NC_000007.13:g.142988874_142988893dup, NC_000007.13:g.142988893_142988894insTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.142988893_142988894insTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.142988893_142988894insTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.142988893_142988894insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.142988893_142988894insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.142988893_142988894insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.142988893_142988894insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.142988893_142988894insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.142988893_142988894insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029248.1:g.8575_8586del, NG_029248.1:g.8576_8586del, NG_029248.1:g.8577_8586del, NG_029248.1:g.8578_8586del, NG_029248.1:g.8579_8586del, NG_029248.1:g.8580_8586del, NG_029248.1:g.8581_8586del, NG_029248.1:g.8582_8586del, NG_029248.1:g.8583_8586del, NG_029248.1:g.8584_8586del, NG_029248.1:g.8585_8586del, NG_029248.1:g.8586del, NG_029248.1:g.8586dup, NG_029248.1:g.8585_8586dup, NG_029248.1:g.8584_8586dup, NG_029248.1:g.8583_8586dup, NG_029248.1:g.8582_8586dup, NG_029248.1:g.8581_8586dup, NG_029248.1:g.8580_8586dup, NG_029248.1:g.8579_8586dup, NG_029248.1:g.8578_8586dup, NG_029248.1:g.8577_8586dup, NG_029248.1:g.8576_8586dup, NG_029248.1:g.8575_8586dup, NG_029248.1:g.8574_8586dup, NG_029248.1:g.8573_8586dup, NG_029248.1:g.8572_8586dup, NG_029248.1:g.8571_8586dup, NG_029248.1:g.8570_8586dup, NG_029248.1:g.8569_8586dup, NG_029248.1:g.8568_8586dup, NG_029248.1:g.8567_8586dup, NG_029248.1:g.8586_8587insTTTTTTTTTTTTTTTTTTTTT, NG_029248.1:g.8586_8587insTTTTTTTTTTTTTTTTTTTTTT, NG_029248.1:g.8586_8587insTTTTTTTTTTTTTTTTTTTTTTT, NG_029248.1:g.8586_8587insTTTTTTTTTTTTTTTTTTTTTTTT, NG_029248.1:g.8586_8587insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029248.1:g.8586_8587insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029248.1:g.8586_8587insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029248.1:g.8586_8587insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029248.1:g.8586_8587insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912891682.

rs1491289168 [Homo sapiens]

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

Select item 14912122553.

rs1491212255 has merged into rs373716346 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA [Show Flanks]
Chromosome:: 7:143309450 (GRCh38)
7:143006543 (GRCh37)
Canonical SPDI:: NC_000007.14:143309442:ACACACACACA:ACACACA,NC_000007.14:143309442:ACACACACACA:ACACACACA,NC_000007.14:143309442:ACACACACACA:ACACACACACACA
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACA=0./0 (ALFA)
AC=0.00109/2 (Korea1K)
AC=0.01667/10 (NorthernSweden)
HGVS:: NC_000007.14:g.143309444CA[3], NC_000007.14:g.143309444CA[4], NC_000007.14:g.143309444CA[6], NC_000007.13:g.143006537CA[3], NC_000007.13:g.143006537CA[4], NC_000007.13:g.143006537CA[6], NG_029248.1:g.26230CA[3], NG_029248.1:g.26230CA[4], NG_029248.1:g.26230CA[6]

Select item 14910874744.

rs1491087474 has merged into rs80166998 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:143309437 (GRCh38)
7:143006530 (GRCh37)
Canonical SPDI:: NC_000007.14:143309424:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:143309424:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:143309424:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:143309424:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:143309424:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:143309424:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:143309424:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:143309424:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:143309424:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:143309424:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:143309424:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:143309424:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000007.14:g.143309437_143309443del, NC_000007.14:g.143309440_143309443del, NC_000007.14:g.143309441_143309443del, NC_000007.14:g.143309442_143309443del, NC_000007.14:g.143309443del, NC_000007.14:g.143309443dup, NC_000007.14:g.143309442_143309443dup, NC_000007.14:g.143309441_143309443dup, NC_000007.14:g.143309440_143309443dup, NC_000007.14:g.143309439_143309443dup, NC_000007.14:g.143309438_143309443dup, NC_000007.14:g.143309436_143309443dup, NC_000007.13:g.143006530_143006536del, NC_000007.13:g.143006533_143006536del, NC_000007.13:g.143006534_143006536del, NC_000007.13:g.143006535_143006536del, NC_000007.13:g.143006536del, NC_000007.13:g.143006536dup, NC_000007.13:g.143006535_143006536dup, NC_000007.13:g.143006534_143006536dup, NC_000007.13:g.143006533_143006536dup, NC_000007.13:g.143006532_143006536dup, NC_000007.13:g.143006531_143006536dup, NC_000007.13:g.143006529_143006536dup, NG_029248.1:g.26223_26229del, NG_029248.1:g.26226_26229del, NG_029248.1:g.26227_26229del, NG_029248.1:g.26228_26229del, NG_029248.1:g.26229del, NG_029248.1:g.26229dup, NG_029248.1:g.26228_26229dup, NG_029248.1:g.26227_26229dup, NG_029248.1:g.26226_26229dup, NG_029248.1:g.26225_26229dup, NG_029248.1:g.26224_26229dup, NG_029248.1:g.26222_26229dup

Select item 14910361585.

rs1491036158 has merged into rs4647285 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 7:143290548 (GRCh38)
7:142987641 (GRCh37)
Canonical SPDI:: NC_000007.14:143290545:ATAT:AT,NC_000007.14:143290545:ATAT:ATATAT
Gene:: CASP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0.167231/1878 (ALFA)
AT=0.015634/262 (TOMMO)
-=0.03821/70 (Korea1K)
-=0.04717/10 (Vietnamese)
-=0.257589/1154 (Estonian)
-=0.281667/169 (NorthernSweden)
-=0.300601/300 (GoNL)
-=0.310327/1196 (ALSPAC)
-=0.328209/1217 (TWINSUK)
AT=0.347244/1739 (1000Genomes)
-=0.375/15 (GENOME_DK)
-=0.407186/107778 (TOPMED)
HGVS:: NC_000007.14:g.143290546AT[1], NC_000007.14:g.143290546AT[3], NC_000007.13:g.142987639AT[1], NC_000007.13:g.142987639AT[3], NG_029248.1:g.7332AT[1], NG_029248.1:g.7332AT[3], NG_045428.1:g.26AT[1], NG_045428.1:g.26AT[3]

Select item 14909370036.

rs1490937003 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:143286686 (GRCh38)
7:142983779 (GRCh37)
Canonical SPDI:: NC_000007.14:143286685:G:A
Gene:: CASP2 (Varview), TMEM139 (Varview), TMEM139-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.143286686G>A, NC_000007.13:g.142983779G>A, NG_029248.1:g.3472G>A, NR_040003.3:n.751G>A, NR_040003.2:n.759G>A, NR_040003.1:n.762G>A, NM_001242774.3:c.508G>A, NM_001242774.2:c.508G>A, NM_001242774.1:c.508G>A, NM_001242775.3:c.508G>A, NM_001242775.2:c.508G>A, NM_001242775.1:c.508G>A, NM_153345.3:c.508G>A, NM_153345.2:c.508G>A, NM_001282876.2:c.508G>A, NM_001282876.1:c.508G>A, NM_001242773.2:c.508G>A, NM_001242773.1:c.508G>A, NR_104254.2:n.402G>A, NR_104254.1:n.461G>A, NR_104253.2:n.304G>A, NR_104253.1:n.363G>A, NM_001282877.1:c.508G>A, NR_104250.1:n.440G>A, NR_104252.1:n.437G>A, NM_001242776.1:c.79G>A, NR_104251.1:n.339G>A, NM_001242777.1:c.79G>A, NP_001229703.1:p.Ala170Thr, NP_001229704.1:p.Ala170Thr, NP_699176.1:p.Ala170Thr, NP_001269805.1:p.Ala170Thr, NP_001229702.1:p.Ala170Thr, NP_001269806.1:p.Ala170Thr

Select item 14908223287.

rs1490822328 [Homo sapiens]

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

Select item 14907589898.

rs1490758989 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:143289499 (GRCh38)
7:142986592 (GRCh37)
Canonical SPDI:: NC_000007.14:143289498:A:T
Gene:: CASP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.143289499A>T, NC_000007.13:g.142986592A>T, NG_029248.1:g.6285A>T

Select item 14907519099.

rs1490751909 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:143306274 (GRCh38)
7:143003367 (GRCh37)
Canonical SPDI:: NC_000007.14:143306273:T:G
Gene:: CASP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
HGVS:: NC_000007.14:g.143306274T>G, NC_000007.13:g.143003367T>G, NG_029248.1:g.23060T>G, NM_001224.5:c.*1591T>G, NM_001224.4:c.*1591T>G, NM_032982.4:c.*1203T>G, NM_032982.3:c.*1203T>G, NM_032983.4:c.*2017T>G, NM_032983.3:c.*2017T>G, NM_032984.2:c.*2017T>G

Select item 149070974710.

rs1490709747 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:143305272 (GRCh38)
7:143002365 (GRCh37)
Canonical SPDI:: NC_000007.14:143305271:C:T
Gene:: CASP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.143305272C>T, NC_000007.13:g.143002365C>T, NG_029248.1:g.22058C>T, NM_001224.5:c.*589C>T, NM_001224.4:c.*589C>T, NM_032982.4:c.*201C>T, NM_032982.3:c.*201C>T, NM_032983.4:c.*1015C>T, NM_032983.3:c.*1015C>T, NM_032984.2:c.*1015C>T, NM_032984.1:c.*1015C>T

Select item 149065730611.

rs1490657306 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:143291803 (GRCh38)
7:142988896 (GRCh37)
Canonical SPDI:: NC_000007.14:143291802:G:T
Gene:: CASP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.00099/28 (TOMMO)
HGVS:: NC_000007.14:g.143291803G>T, NC_000007.13:g.142988896G>T, NG_029248.1:g.8589G>T

Select item 149052992112.

rs1490529921 has merged into rs965415147 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 7:143283239 (GRCh38)
7:142980332 (GRCh37)
Canonical SPDI:: NC_000007.14:143283238:TTTTTTTTT:TTTTTTTT,NC_000007.14:143283238:TTTTTTTTT:TTTTTTTTTT
Gene:: TMEM139 (Varview), TMEM139-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.00125/8 (1000Genomes)
-=0.00491/9 (Korea1K)
HGVS:: NC_000007.14:g.143283247del, NC_000007.14:g.143283247dup, NC_000007.13:g.142980340del, NC_000007.13:g.142980340dup, NG_029248.1:g.33del, NG_029248.1:g.33dup

Select item 149026053413.

rs1490260534 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:143306589 (GRCh38)
7:143003682 (GRCh37)
Canonical SPDI:: NC_000007.14:143306588:C:A
Gene:: CASP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000022/3 (GnomAD)
HGVS:: NC_000007.14:g.143306589C>A, NC_000007.13:g.143003682C>A, NG_029248.1:g.23375C>A, NM_001224.5:c.*1906C>A, NM_001224.4:c.*1906C>A, NM_032982.4:c.*1518C>A, NM_032982.3:c.*1518C>A, NM_032983.4:c.*2332C>A, NM_032983.3:c.*2332C>A, NM_032984.2:c.*2332C>A

Select item 149021435414.

rs1490214354 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:143305729 (GRCh38)
7:143002822 (GRCh37)
Canonical SPDI:: NC_000007.14:143305728:T:C
Gene:: CASP2 (Varview)
Functional Consequence:: 3_prime_UTR_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_000007.14:g.143305729T>C, NC_000007.13:g.143002822T>C, NG_029248.1:g.22515T>C, NM_001224.5:c.*1046T>C, NM_001224.4:c.*1046T>C, NM_032982.4:c.*658T>C, NM_032982.3:c.*658T>C, NM_032983.4:c.*1472T>C, NM_032983.3:c.*1472T>C, NM_032984.2:c.*1472T>C, NM_032984.1:c.*1472T>C

Select item 149007168515.

rs1490071685 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:143297640 (GRCh38)
7:142994733 (GRCh37)
Canonical SPDI:: NC_000007.14:143297639:T:A
Gene:: CASP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.143297640T>A, NC_000007.13:g.142994733T>A, NG_029248.1:g.14426T>A

Select item 149003953216.

rs1490039532 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:143283774 (GRCh38)
7:142980867 (GRCh37)
Canonical SPDI:: NC_000007.14:143283773:T:C
Gene:: TMEM139 (Varview), TMEM139-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.143283774T>C, NC_000007.13:g.142980867T>C, NG_029248.1:g.560T>C

Select item 148993447317.

rs1489934473 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:143309446 (GRCh38)
7:143006539 (GRCh37)
Canonical SPDI:: NC_000007.14:143309445:C:A,NC_000007.14:143309445:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000528/8 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.143309446C>A, NC_000007.14:g.143309446C>T, NC_000007.13:g.143006539C>A, NC_000007.13:g.143006539C>T, NG_029248.1:g.26232C>A, NG_029248.1:g.26232C>T

Select item 148974230518.

rs1489742305 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:143307127 (GRCh38)
7:143004220 (GRCh37)
Canonical SPDI:: NC_000007.14:143307126:G:A,NC_000007.14:143307126:G:T
Gene:: CASP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.143307127G>A, NC_000007.14:g.143307127G>T, NC_000007.13:g.143004220G>A, NC_000007.13:g.143004220G>T, NG_029248.1:g.23913G>A, NG_029248.1:g.23913G>T, NM_001224.5:c.*2444G>A, NM_001224.5:c.*2444G>T, NM_001224.4:c.*2444G>A, NM_001224.4:c.*2444G>T, NM_032982.4:c.*2056G>A, NM_032982.4:c.*2056G>T, NM_032982.3:c.*2056G>A, NM_032982.3:c.*2056G>T, NM_032983.4:c.*2870G>A, NM_032983.4:c.*2870G>T, NM_032983.3:c.*2870G>A, NM_032983.3:c.*2870G>T, NM_032984.2:c.*2870G>A, NM_032984.2:c.*2870G>T

Select item 148968107519.

rs1489681075 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:143297729 (GRCh38)
7:142994822 (GRCh37)
Canonical SPDI:: NC_000007.14:143297728:G:A,NC_000007.14:143297728:G:T
Gene:: CASP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.004673/1 (Vietnamese)
HGVS:: NC_000007.14:g.143297729G>A, NC_000007.14:g.143297729G>T, NC_000007.13:g.142994822G>A, NC_000007.13:g.142994822G>T, NG_029248.1:g.14515G>A, NG_029248.1:g.14515G>T

Select item 148959638120.

rs1489596381 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:143302923 (GRCh38)
7:143000016 (GRCh37)
Canonical SPDI:: NC_000007.14:143302922:C:G
Gene:: CASP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.143302923C>G, NC_000007.13:g.143000016C>G, NG_029248.1:g.19709C>G

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